Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hemolytic anemia
go back to main search page
Accession:DOID:583 term browser browse the term
Definition:A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Synonyms:exact_synonym: Microangiopathic Anemia;   acquired hemolytic anemia;   microangiopathic hemolytic anemia
 related_synonym: DIEGO BLOOD GROUP ANTIGEN;   HEMOGLOBIN ISEHARA;   HEMOGLOBIN REDONDO;   HEMOGLOBIN SABINE;   Hemoglobin Bucuresti;   Hemoglobin Louisville;   Hemoglobin Nijkerk
 primary_id: MESH:D000743
 xref: ICD10CM:D55-D59;   NCI:C34376
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IDA RGD PMID:11952820 RGD:704364 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Ak1 adenylate kinase 1 ISO
ISS
OMIM:266120 | OMIM:612631 MouseDO PMID:10233365 RGD:1300279 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367, PMID:16629641, PMID:20446436 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:15982355 RGD:11040945 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:2502894, PMID:4794122, PMID:8562390, PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10515893, PMID:10733484 RGD:11049537 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO DNA:polymorphism:cds:p.G368R(human)
ClinVar Annotator: match by term: Hemolytic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8822954, PMID:32581362, PMID:22930244 RGD:11051847 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK
ClinVar Annotator: match by term: Hemolytic anemia
ClinVar Annotator: match by term: HEMOGLOBIN SABINE
ClinVar PMID:42311, PMID:2363414, PMID:2705488, PMID:3781864, PMID:5096522, PMID:5133275, PMID:9629500, PMID:10335981 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: therapeutic
associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human)
CTD PMID:20547162, PMID:21274861, PMID:23933495 RGD:10766472, RGD:10766479 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISS OMIM:266120 | OMIM:612631 MouseDO NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:32581362 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Rhag Rh-associated glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:893429, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7812009, PMID:8206915, PMID:8343110, PMID:8471774, PMID:8608262, PMID:8704215, PMID:11155072, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868, PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:9005995, PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD PMID:25263931, PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD PMID:25130874, PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO
IAGP
DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human)
RGD PMID:4044827, PMID:14555303, PMID:24829075, PMID:4006915, PMID:9604545, PMID:3680504 RGD:10449442, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567 NCBI chr10:15,602,794...15,603,649
Ensembl chr10:15,602,794...15,603,649
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604131
ClinVar
CTD
OMIM
PMID:508945, PMID:538560, PMID:640847, PMID:1428945, PMID:1487419, PMID:1553958, PMID:2197725, PMID:2318293, PMID:2544542, PMID:2566576, PMID:2882671, PMID:2986746, PMID:3191033, PMID:3793931, PMID:5410724, PMID:5460202, PMID:5475469, PMID:5960254, PMID:6158051, PMID:6255436, PMID:6725558, PMID:6882779, PMID:7440717, PMID:7448125, PMID:7639274, PMID:7910813, PMID:8192150, PMID:8460633, PMID:8781536, PMID:9099846, PMID:10569720, PMID:10602170, PMID:11017952, PMID:12393486, PMID:13510789, PMID:13703277, PMID:14978697, PMID:15008259, PMID:15365991, PMID:15650030, PMID:16798638, PMID:20154289, PMID:20615730, PMID:21599435, PMID:22924376, PMID:23590659, PMID:23668236, PMID:24025420, PMID:24432778, PMID:24826792, PMID:25370869, PMID:25741868, PMID:26114741, PMID:26467025, PMID:26911300, PMID:28791910, PMID:29484903, PMID:30864493, PMID:6490612, PMID:4044827 RGD:1599361, RGD:10449442 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: A-Thalassemia
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:88735, PMID:1390250, PMID:1427786, PMID:1463768, PMID:1483699, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1769663, PMID:1917531, PMID:1967205, PMID:2004023, PMID:2200760, PMID:2298457, PMID:2446680, PMID:2577233, PMID:2713503, PMID:2867271, PMID:2898955, PMID:2903765, PMID:3422218, PMID:3462712, PMID:6162860, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6264391, PMID:6264477, PMID:6270663, PMID:6280057, PMID:6304979, PMID:6457059, PMID:6583702, PMID:6585831, PMID:6714226, PMID:6896219, PMID:7151176, PMID:7312624, PMID:7522523, PMID:7558878, PMID:7668219, PMID:8095930, PMID:8330981, PMID:8373896, PMID:8602996, PMID:8619407, PMID:8917506, PMID:9048934, PMID:9101288, PMID:9140720, PMID:9401495, PMID:9490703, PMID:10335989, PMID:10612821, PMID:11559932, PMID:11857746, PMID:11939510, PMID:12144057, PMID:12764548, PMID:14576320, PMID:15108284, PMID:15654898, PMID:16291734, PMID:16311287, PMID:16470532, PMID:17331080, PMID:17365006, PMID:18294253, PMID:18603555, PMID:19000664, PMID:19254853, PMID:20132300, PMID:20301599, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20704537, PMID:21119755, PMID:21228398, PMID:21389146, PMID:21417574, PMID:21797703, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:24033266, PMID:24857915, PMID:25087612, PMID:25089872, PMID:25155404, PMID:25332589, PMID:25525159, PMID:25572186, PMID:25741868, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26097845, PMID:26193974, PMID:26467025, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27821015, PMID:28366028, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008, PMID:14555303 RGD:11353869 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbq1b hemoglobin subunit theta 1B ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560, PMID:2318293, PMID:3191033, PMID:7910813, PMID:8781536, PMID:10602170, PMID:11017952, PMID:12393486, PMID:15650030, PMID:20154289, PMID:21599435, PMID:23590659, PMID:24025420 NCBI chr10:15,599,821...15,602,680
Ensembl chr10:15,600,220...15,600,858
JBrowse link
G Hbz hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576, PMID:2986746, PMID:3191033, PMID:8460633, PMID:9099846, PMID:10602170, PMID:11017952, PMID:24025420, PMID:26114741, PMID:28791910 NCBI chr10:15,609,348...15,610,826
Ensembl chr10:15,609,358...15,610,826
JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
ClinVar Annotator: match by null
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
OMIM
ClinVar
PMID:1415255, PMID:3239563, PMID:3658675, PMID:6682021, PMID:7506096, PMID:7697714, PMID:7726225, PMID:8630485, PMID:8644709, PMID:8968741, PMID:9244431, PMID:9326931, PMID:9598720, PMID:10204841, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15591283, PMID:16118346, PMID:16722615, PMID:16763962, PMID:16813605, PMID:16955409, PMID:17579672, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21505078, PMID:21653732, PMID:22995991, PMID:23681356, PMID:24082139, PMID:24289169, PMID:24327140, PMID:24728327, PMID:24759409, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28371197, PMID:28371217, PMID:28492530, PMID:28492532, PMID:28708303, PMID:29304373, PMID:29602769, PMID:29910053, PMID:24289169, PMID:24327140, PMID:24805811 RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha-plus-thalassemia ClinVar PMID:11791872 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by OMIM:300448
OMIM
ClinVar
PMID:1415255, PMID:9326931, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:16118346, PMID:16722615, PMID:16813605, PMID:16955409, PMID:18409179, PMID:19005673, PMID:20500465, PMID:21653732, PMID:24289169, PMID:24327140, PMID:24805811, PMID:25741868, PMID:28371197, PMID:28371217, PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999, PMID:9029003, PMID:10569720, PMID:19636270, PMID:20147853, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human) RGD PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:24033266, PMID:24652797, PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733, PMID:14639503, PMID:17634448, PMID:18325906, PMID:18796626, PMID:19168221, PMID:20301541, PMID:20595690, PMID:23314101, PMID:23431077, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646, PMID:3480783, PMID:9551389, PMID:10528197, PMID:14566051, PMID:14615110, PMID:16621965, PMID:16762990, PMID:16882452, PMID:17089378, PMID:20513133, PMID:21706448, PMID:23431077, PMID:23731345, PMID:24033266, PMID:24161037, PMID:24247905, PMID:24944786, PMID:25381125, PMID:25525159, PMID:25741868, PMID:25899302, PMID:26054645, PMID:26307634, PMID:26559391, PMID:28056875, PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879, PMID:6308626, PMID:7452889, PMID:8181962, PMID:15661753, PMID:16518403, PMID:16936732, PMID:17182750, PMID:18806293, PMID:20108004, PMID:20513133, PMID:21541267, PMID:22440158, PMID:23847193, PMID:24033266, PMID:24652797, PMID:25741868, PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435, PMID:8072530, PMID:9551389, PMID:9811382, PMID:9848786, PMID:10577907, PMID:10762557, PMID:11158219, PMID:11170895, PMID:11170896, PMID:11978762, PMID:12424708, PMID:12697737, PMID:14978182, PMID:15761120, PMID:15870199, PMID:16299065, PMID:16619239, PMID:17018561, PMID:17947292, PMID:18252712, PMID:18268093, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:21415311, PMID:21909106, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250, PMID:16621965, PMID:18557729, PMID:18825487, PMID:19877009, PMID:20016463, PMID:20106822, PMID:20203157, PMID:20513133, PMID:20595690, PMID:22710145, PMID:23307876, PMID:23314101, PMID:23431077, PMID:23685748, PMID:23787556, PMID:24033266, PMID:24034049, PMID:24036952, PMID:24161037, PMID:25037630, PMID:25135378, PMID:25741868, PMID:25758434, PMID:27268256, PMID:28282489, PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698, PMID:24511134, PMID:24747643, PMID:25741868, PMID:29590070, PMID:30311386 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989, PMID:10460600, PMID:11986219, PMID:12139752, PMID:17677000, PMID:19625716, PMID:23332921, PMID:24933457, PMID:25135378, PMID:25741868, PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:18209093, PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:74,461,064...74,504,475
Ensembl chr18:74,461,055...74,485,139
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Tslp thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by OMIM:603902
OMIM
ClinVar
PMID:49057, PMID:81926, PMID:88735, PMID:909565, PMID:1301203, PMID:1353069, PMID:1376298, PMID:1390250, PMID:1427786, PMID:1428943, PMID:1463768, PMID:1483699, PMID:1517108, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1740317, PMID:1769663, PMID:1802884, PMID:1814858, PMID:1917531, PMID:1967205, PMID:1971109, PMID:1986365, PMID:1986379, PMID:2004023, PMID:2014803, PMID:2123063, PMID:2200760, PMID:2207008, PMID:2296310, PMID:2298457, PMID:2446680, PMID:2458145, PMID:2467892, PMID:2563949, PMID:2577233, PMID:2579336, PMID:2582106, PMID:2713503, PMID:2867271, PMID:2875755, PMID:2888754, PMID:2891298, PMID:2893541, PMID:2898142, PMID:2898460, PMID:2898955, PMID:2903765, PMID:3014870, PMID:3021607, PMID:3048433, PMID:3170235, PMID:3354556, PMID:3417300, PMID:3422218, PMID:3457470, PMID:3462712, PMID:3690667, PMID:3752087, PMID:3821796, PMID:3957690, PMID:4129558, PMID:4232783, PMID:4351905, PMID:4361439, PMID:6019668, PMID:6162860, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6264391, PMID:6264477, PMID:6268660, PMID:6270663, PMID:6272289, PMID:6280057, PMID:6285354, PMID:6304979, PMID:6434492, PMID:6457059, PMID:6583683, PMID:6583702, PMID:6584911, PMID:6585831, PMID:6714226, PMID:6896219, PMID:7151176, PMID:7312624, PMID:7522523, PMID:7558878, PMID:7632967, PMID:7668219, PMID:7993409, PMID:8095930, PMID:8161774, PMID:8199597, PMID:8330981, PMID:8373896, PMID:8435318, PMID:8462981, PMID:8602996, PMID:8619407, PMID:8917506, PMID:8978308, PMID:9048934, PMID:9101288, PMID:9140720, PMID:9163586, PMID:9401495, PMID:9490703, PMID:9859938, PMID:9875660, PMID:10335989, PMID:10367791, PMID:10602954, PMID:10612821, PMID:11545326, PMID:11559932, PMID:11741197, PMID:11830454, PMID:11857738, PMID:11857746, PMID:11880644, PMID:11939510, PMID:12124399, PMID:12144057, PMID:12368169, PMID:12764548, PMID:12779270, PMID:13066514, PMID:13115700, PMID:13369537, PMID:13464827, PMID:13852872, PMID:14576320, PMID:15108284, PMID:15654898, PMID:16001361, PMID:16291734, PMID:16311287, PMID:16470532, PMID:17287491, PMID:17331080, PMID:17365006, PMID:17932132, PMID:18048408, PMID:18192399, PMID:18294253, PMID:18603555, PMID:18654889, PMID:19000664, PMID:19061217, PMID:19254853, PMID:19372376, PMID:19437135, PMID:19460936, PMID:19758965, PMID:19958185, PMID:20132300, PMID:20233970, PMID:20301551, PMID:20301599, PMID:20305663, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20492708, PMID:20532507, PMID:20642331, PMID:20704537, PMID:20861612, PMID:20954261, PMID:21119755, PMID:21131035, PMID:21228398, PMID:21232998, PMID:21302591, PMID:21389146, PMID:21417574, PMID:21529713, PMID:21797703, PMID:22010933, PMID:22028795, PMID:22074124, PMID:22075726, PMID:22180324, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22625666, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:23647352, PMID:23729725, PMID:24033266, PMID:24080465, PMID:24265529, PMID:24450243, PMID:24493127, PMID:24828949, PMID:24857915, PMID:24880717, PMID:25023084, PMID:25023085, PMID:25087612, PMID:25089872, PMID:25113778, PMID:25155404, PMID:25332589, PMID:25408857, PMID:25525159, PMID:25572186, PMID:25741868, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26076395, PMID:26076396, PMID:26079343, PMID:26097845, PMID:26193974, PMID:26275168, PMID:26372199, PMID:26436569, PMID:26467025, PMID:26877226, PMID:26901597, PMID:26948378, PMID:26956563, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27756326, PMID:27821015, PMID:28356267, PMID:28366028, PMID:28385923, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
RGD PMID:23541515, PMID:25574177, PMID:25751242, PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567, PMID:17299088, PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043, PMID:4646552, PMID:7803274, PMID:21045395, PMID:25354131, PMID:26467025, PMID:27207683, PMID:28526955 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta treatment ISO DNA:nonsense mutation:CDS:168C>T, p.Q39X (human)
ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: beta^0^ Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN DURHAM-N.C.
ClinVar Annotator: match by term: HEMOGLOBIN SAKI
ClinVar Annotator: match by term: HEMOGLOBIN HOFU
ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON)
ClinVar Annotator: match by term: HEMOGLOBIN AGENOGI
ClinVar Annotator: match by term: Beta-thalassemia dominant
ClinVar Annotator: match by term: Beta-Houston-thalassemia
ClinVar Annotator: match by term: Beta thalassemia major
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613985
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple
ClinVar
CTD
OMIM
PMID:14973, PMID:49057, PMID:81926, PMID:88735, PMID:237566, PMID:287080, PMID:291719, PMID:429843, PMID:457425, PMID:640855, PMID:700140, PMID:711920, PMID:721611, PMID:721614, PMID:750553, PMID:750554, PMID:893136, PMID:909565, PMID:932531, PMID:998617, PMID:1052173, PMID:1112610, PMID:1163074, PMID:1177278, PMID:1244906, PMID:1301199, PMID:1301203, PMID:1301930, PMID:1301952, PMID:1353069, PMID:1374896, PMID:1376298, PMID:1384315, PMID:1390250, PMID:1398296, PMID:1420507, PMID:1427786, PMID:1428943, PMID:1428944, PMID:1428946, PMID:1428947, PMID:1463768, PMID:1483699, PMID:1487424, PMID:1511973, PMID:1515453, PMID:1515649, PMID:1517107, PMID:1517108, PMID:1517110, PMID:1517111, PMID:1520612, PMID:1536956, PMID:1545796, PMID:1550780, PMID:1577489, PMID:1581247, PMID:1586746, PMID:1610915, PMID:1634236, PMID:1634366, PMID:1634368, PMID:1680789, PMID:1686262, PMID:1698102, PMID:1705411, PMID:1709134, PMID:1716997, PMID:1719807, PMID:1728311, PMID:1729892, PMID:1732017, PMID:1734721, PMID:1740317, PMID:1769663, PMID:1772786, PMID:1777603, PMID:1787101, PMID:1802884, PMID:1814858, PMID:1850955, PMID:1856830, PMID:1873227, PMID:1897518, PMID:1917531, PMID:1951306, PMID:1954392, PMID:1960615, PMID:1967205, PMID:1971109, PMID:1974422, PMID:1986365, PMID:1986379, PMID:1995096, PMID:2001456, PMID:2004023, PMID:2005117, PMID:2014803, PMID:2018842, PMID:2043469, PMID:2070092, PMID:2071159, PMID:2079434, PMID:2079437, PMID:2120891, PMID:2123063, PMID:2197725, PMID:2200760, PMID:2200762, PMID:2207008, PMID:2239966, PMID:2265836, PMID:2272839, PMID:2272840, PMID:2283297, PMID:2283299, PMID:2283303, PMID:2291577, PMID:2296310, PMID:2298457, PMID:2298920, PMID:2306523, PMID:2307460, PMID:2310691, PMID:2346726, PMID:2375910, PMID:2375912, PMID:2393018, PMID:2393712, PMID:2399911, PMID:2412200, PMID:2424301, PMID:2430648, PMID:2434529, PMID:2439149, PMID:2440502, PMID:2446680, PMID:2456798, PMID:2458145, PMID:2467892, PMID:2525253, PMID:2539344, PMID:2542242, PMID:2563949, PMID:2577233, PMID:2579336, PMID:2582106, PMID:2606727, PMID:2634667, PMID:2634674, PMID:2665856, PMID:2703241, PMID:2703363, PMID:2703366, PMID:2703368, PMID:2713503, PMID:2730955, PMID:2736244, PMID:2741940, PMID:2753736, PMID:2775294, PMID:2804366, PMID:2822177, PMID:2837728, PMID:2867271, PMID:2875755, PMID:2887538, PMID:2888754, PMID:2891298, PMID:2893541, PMID:2895770, PMID:2897787, PMID:2898142, PMID:2898460, PMID:2898955, PMID:2901867, PMID:2903765, PMID:2915972, PMID:2917118, PMID:2917193, PMID:2920213, PMID:2920214, PMID:2921044, PMID:2987224, PMID:2987809, PMID:3002527, PMID:3006832, PMID:3014870, PMID:3021139, PMID:3021607, PMID:3024968, PMID:3031297, PMID:3048433, PMID:3114175, PMID:3115700, PMID:3170235, PMID:3354556, PMID:3382401, PMID:3387213, PMID:3403716, PMID:3408672, PMID:3417300, PMID:3422218, PMID:3446652, PMID:3457470, PMID:3462712, PMID:3557993, PMID:3557998, PMID:3623977, PMID:3671081, PMID:3683554, PMID:3689700, PMID:3690667, PMID:3752087, PMID:3780671, PMID:3821796, PMID:3828533, PMID:3840039, PMID:3859465, PMID:3923770, PMID:3942130, PMID:3955238, PMID:3957690, PMID:3957694, PMID:4018033, PMID:4078867, PMID:4129558, PMID:4232783, PMID:4351905, PMID:4361439, PMID:4413625, PMID:4512457, PMID:4808644, PMID:4991321, PMID:5050915, PMID:5097135, PMID:5129589, PMID:5481775, PMID:5609824, PMID:5619995, PMID:5634912, PMID:5658717, PMID:5672850, PMID:5791015, PMID:5851873, PMID:5856115, PMID:5863839, PMID:5915974, PMID:5925329, PMID:5972415, PMID:5996551, PMID:6019668, PMID:6021187, PMID:6033745, PMID:6054484, PMID:6086605, PMID:6089938, PMID:6101206, PMID:6162860, PMID:6166632, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6198908, PMID:6246994, PMID:6248489, PMID:6251466, PMID:6264391, PMID:6264477, PMID:6268660, PMID:6270663, PMID:6272289, PMID:6275383, PMID:6280057, PMID:6280138, PMID:6285354, PMID:6292840, PMID:6298782, PMID:6304979, PMID:6308558, PMID:6310991, PMID:6316272, PMID:6318797, PMID:6322284, PMID:6434492, PMID:6457059, PMID:6469698, PMID:6500990, PMID:6572978, PMID:6583683, PMID:6583702, PMID:6584911, PMID:6585381, PMID:6585831, PMID:6646217, PMID:6664996, PMID:6668188, PMID:6695908, PMID:6714226, PMID:6733281, PMID:6826539, PMID:6852251, PMID:6859036, PMID:6896219, PMID:6985481, PMID:7076659, PMID:7104238, PMID:7137165, PMID:7151176, PMID:7173395, PMID:7177196, PMID:7204093, PMID:7204096, PMID:7204097, PMID:7229029, PMID:7312624, PMID:7338475, PMID:7395858, PMID:7507641, PMID:7522523, PMID:7530406, PMID:7558874, PMID:7558878, PMID:7558879, PMID:7599641, PMID:7615400, PMID:7632967, PMID:7655036, PMID:7663000, PMID:7668219, PMID:7668221, PMID:7669681, PMID:7683931, PMID:7713749, PMID:7759073, PMID:7794779, PMID:7795641, PMID:7819068, PMID:7852087, PMID:7864023, PMID:7899267, PMID:7908281, PMID:7909640, PMID:7928376, PMID:7993409, PMID:8019567, PMID:8037185, PMID:8037197, PMID:8081396, PMID:8091935, PMID:8094943, PMID:8095930, PMID:8111050, PMID:8112743, PMID:8144356, PMID:8144358, PMID:8161774, PMID:8172199, PMID:8199027, PMID:8199597, PMID:8201467, PMID:8225319, PMID:8226099, PMID:8251381, PMID:8257991, PMID:8262525, PMID:8270260, PMID:8318995, PMID:8330972, PMID:8330981, PMID:8338769, PMID:8373896, PMID:8435318, PMID:8438884, PMID:8462981, PMID:8477263, PMID:8485062, PMID:8518184, PMID:8537236, PMID:8562944, PMID:8602996, PMID:8619407, PMID:8629112, PMID:8638609, PMID:8682512, PMID:8703815, PMID:8718699, PMID:8718703, PMID:8839873, PMID:8856098, PMID:8874232, PMID:8889595, PMID:8917506, PMID:8952150, PMID:8978308, PMID:8980256, PMID:9028819, PMID:9028827, PMID:9048934, PMID:9101282, PMID:9101288, PMID:9113933, PMID:9140720, PMID:9160698, PMID:9163586, PMID:9223924, PMID:9225979, PMID:9340427, PMID:9342003, PMID:9353871, PMID:9371531, PMID:9401495, PMID:9415845, PMID:9427726, PMID:9450794, PMID:9490703, PMID:9494052, PMID:9494053, PMID:9495372, PMID:9556665, PMID:9560205, PMID:9629504, PMID:9653159, PMID:9730368, PMID:9792288, PMID:9834244, PMID:9845707, PMID:9859938, PMID:9875660, PMID:9949622, PMID:10081986, PMID:10203101, PMID:10233364, PMID:10335988, PMID:10335989, PMID:10367791, PMID:10520021, PMID:10569722, PMID:10583251, PMID:10602954, PMID:10606872, PMID:10612821, PMID:10706767, PMID:10756381, PMID:10776695, PMID:10815781, PMID:10840054, PMID:10861818, PMID:10870887, PMID:10997336, PMID:11001883, PMID:11179419, PMID:11186262, PMID:11186264, PMID:11300343, PMID:11300348, PMID:11300352, PMID:11425418, PMID:11480785, PMID:11532628, PMID:11545326, PMID:11559932, PMID:11570721, PMID:11713529, PMID:11722417, PMID:11741197, PMID:11791873, PMID:11791874, PMID:11791878, PMID:11830454, PMID:11857738, PMID:11857746, PMID:11880644, PMID:11939510, PMID:11939518, PMID:12000828, PMID:12124399, PMID:12144056, PMID:12144057, PMID:12144066, PMID:12149194, PMID:12172041, PMID:12189174, PMID:12210807, PMID:12324499, PMID:12353305, PMID:12368169, PMID:12383672, PMID:12403488, PMID:12403491, PMID:12403498, PMID:12430907, PMID:12488606, PMID:12508270, PMID:12709369, PMID:12752111, PMID:12764548, PMID:12779270, PMID:12779277, PMID:12850492, PMID:12885342, PMID:12908806, PMID:12955718, PMID:13066514, PMID:13108995, PMID:13115700, PMID:13369537, PMID:13464827, PMID:13509426, PMID:13590135, PMID:13618691, PMID:13634986, PMID:13685866, PMID:13716727, PMID:13716853, PMID:13852872, PMID:13872094, PMID:13897827, PMID:13911805, PMID:14081243, PMID:14160125, PMID:14282052, PMID:14343445, PMID:14405428, PMID:14452533, PMID:14492555, PMID:14555318, PMID:14576320, PMID:14613965, PMID:14649318, PMID:14715623, PMID:14734204, PMID:14808148, PMID:15000665, PMID:15008262, PMID:15008267, PMID:15009072, PMID:15108284, PMID:15114532, PMID:15153712, PMID:15181845, PMID:15257926, PMID:15278762, PMID:15315794, PMID:15470211, PMID:15481884, PMID:15481885, PMID:15481886, PMID:15481893, PMID:15481896, PMID:15641237, PMID:15654898, PMID:15658184, PMID:15658193, PMID:15697092, PMID:15761692, PMID:15768552, PMID:15929117, PMID:15933066, PMID:15973412, PMID:16001361, PMID:16044458, PMID:16103715, PMID:16114182, PMID:16114184, PMID:16114187, PMID:16126871, PMID:16175509, PMID:16178917, PMID:16225661, PMID:16266911, PMID:16291734, PMID:16311287, PMID:16370495, PMID:16466947, PMID:16470532, PMID:16540414, PMID:16540415, PMID:16732578, PMID:16750922, PMID:16755567, PMID:16821247, PMID:16987798, PMID:16987801, PMID:17007829, PMID:17008283, PMID:17018382, PMID:17145605, PMID:17278112, PMID:17287491, PMID:17331080, PMID:17365003, PMID:17365006, PMID:17486493, PMID:17486497, PMID:17486505, PMID:17565724, PMID:17598223, PMID:17606453, PMID:17654075, PMID:17655700, PMID:17768122, PMID:17774955, PMID:17900295, PMID:17932132, PMID:17949282, PMID:17994377, PMID:17994378, PMID:18024613, PMID:18048408, PMID:18056002, PMID:18076350, PMID:18081706, PMID:18096416, PMID:18105244, PMID:18192399, PMID:18266208, PMID:18294253, PMID:18339318, PMID:18403562, PMID:18473247, PMID:18473248, PMID:18495504, PMID:18523401, PMID:18568278, PMID:18591626, PMID:18603555, PMID:18619001, PMID:18654889, PMID:18694524, PMID:18818920, PMID:18829352, PMID:18932067, PMID:18932071, PMID:18954999, PMID:18976160, PMID:19000664, PMID:19061217, PMID:19092326, PMID:19103851, PMID:19125249, PMID:19205970, PMID:19205975, PMID:19254853, PMID:19372376, PMID:19429541, PMID:19437135, PMID:19440680, PMID:19460936, PMID:19486366, PMID:19488752, PMID:19631632, PMID:19657836, PMID:19657842, PMID:19727720, PMID:19758965, PMID:19841268, PMID:19843386, PMID:19958184, PMID:19958185, PMID:19960060, PMID:20035706, PMID:20110664, PMID:20113284, PMID:20113289, PMID:20113295, PMID:20113296, PMID:20132300, PMID:20181291, PMID:20230396, PMID:20233970, PMID:20301551, PMID:20301599, PMID:20305663, PMID:20324533, PMID:20353354, PMID:20395516, PMID:20406103, PMID:20412082, PMID:20437613, PMID:20492708, PMID:20524821, PMID:20532507, PMID:20642331, PMID:20642337, PMID:20704537, PMID:20737602, PMID:20788973, PMID:20854126, PMID:20861612, PMID:20954261, PMID:20975770, PMID:21119755, PMID:21131035, PMID:21194254, PMID:21194265, PMID:21228398, PMID:21232998, PMID:21250876, PMID:21250885, PMID:21302591, PMID:21333566, PMID:21389146, PMID:21417574, PMID:21423179, PMID:21509314, PMID:21529713, PMID:21599435, PMID:21704277, PMID:21732929, PMID:21797702, PMID:21797703, PMID:21801233, PMID:21845419, PMID:21879898, PMID:21892914, PMID:21931510, PMID:21978377, PMID:22010933, PMID:22028795, PMID:22074124, PMID:22075726, PMID:22109911, PMID:22110956, PMID:22122796, PMID:22145566, PMID:22180324, PMID:22188014, PMID:22200002, PMID:22233277, PMID:22239493, PMID:22260787, PMID:22271886, PMID:22335963, PMID:22356097, PMID:22392582, PMID:22409273, PMID:22563936, PMID:22625666, PMID:22675570, PMID:22690826, PMID:22734587, PMID:22738610, PMID:22738642, PMID:22851993, PMID:22875618, PMID:22896714, PMID:22898041, PMID:22975760, PMID:22981786, PMID:22983591, PMID:23001606, PMID:23106651, PMID:23162295, PMID:23234478, PMID:23297836, PMID:23321370, PMID:23348723, PMID:23362932, PMID:23383304, PMID:23398055, PMID:23425204, PMID:23457306, PMID:23510507, PMID:23525874, PMID:23586372, PMID:23590330, PMID:23590658, PMID:23606168, PMID:23637309, PMID:23647352, PMID:23651435, PMID:23665927, PMID:23729725, PMID:23806067, PMID:23812938, PMID:23859443, PMID:23878091, PMID:23889802, PMID:23975182, PMID:24033266, PMID:24052702, PMID:24052746, PMID:24055728, PMID:24080465, PMID:24086942, PMID:24099628, PMID:24200101, PMID:24200214, PMID:24245819, PMID:24265529, PMID:24368026, PMID:24369358, PMID:24401016, PMID:24450243, PMID:24493127, PMID:24581976, PMID:24616059, PMID:24616209, PMID:24682197, PMID:24719849, PMID:24744638, PMID:24754789, PMID:24814631, PMID:24828949, PMID:24857915, PMID:24880717, PMID:24986053, PMID:25000193, PMID:25016698, PMID:25023084, PMID:25023085, PMID:25087612, PMID:25089872, PMID:25113778, PMID:25130136, PMID:25135424, PMID:25155404, PMID:25244406, PMID:25268796, PMID:25332589, PMID:25370867, PMID:25408857, PMID:25412720, PMID:25469539, PMID:25480500, PMID:25525159, PMID:25525381, PMID:25541274, PMID:25572182, PMID:25572186, PMID:25572187, PMID:25617386, PMID:25657036, PMID:25666204, PMID:25669128, PMID:25677748, PMID:25682598, PMID:25741868, PMID:25754248, PMID:25762031, PMID:25806420, PMID:25818823, PMID:25825561, PMID:25849334, PMID:25856402, PMID:25905082, PMID:25910213, PMID:25976460, PMID:26029792, PMID:26041423, PMID:26044735, PMID:26076395, PMID:26076396, PMID:26079343, PMID:26084319, PMID:26096710, PMID:26097845, PMID:26182339, PMID:26193974, PMID:26202972, PMID:26275168, PMID:26290351, PMID:26291967, PMID:26351951, PMID:26372199, PMID:26372288, PMID:26402558, PMID:26410419, PMID:26418075, PMID:26436569, PMID:26467025, PMID:26524961, PMID:26554253, PMID:26554738, PMID:26554862, PMID:26594346, PMID:26635043, PMID:26715484, PMID:26850598, PMID:26877226, PMID:26901597, PMID:26948378, PMID:26956563, PMID:27117567, PMID:27117572, PMID:27207683, PMID:27251090, PMID:27258795, PMID:27263053, PMID:27339814, PMID:27351925, PMID:27408413, PMID:27427187, PMID:27453201, PMID:27492766, PMID:27535164, PMID:27690257, PMID:27756326, PMID:27765567, PMID:27785405, PMID:27821015, PMID:27828729, PMID:27829298, PMID:27848919, PMID:27981798, PMID:28125089, PMID:28276871, PMID:28356267, PMID:28366028, PMID:28379995, PMID:28385923, PMID:28391758, PMID:28460555, PMID:28475449, PMID:28492532, PMID:28503568, PMID:28603845, PMID:28635337, PMID:28643346, PMID:28670940, PMID:28670947, PMID:28671035, PMID:28680605, PMID:28768465, PMID:28794124, PMID:28800727, PMID:28865746, PMID:29157184, PMID:29171316, PMID:29182041, PMID:29188602, PMID:29251008, PMID:29313434, PMID:29484903, PMID:29695942, PMID:29893155, PMID:30047296, PMID:30173596, PMID:30311386, PMID:30422720, PMID:30489691, PMID:30626236, PMID:30843739, PMID:31108495, PMID:31395865, PMID:31714438, PMID:32581362, PMID:32860008, PMID:6457059, PMID:16631345, PMID:3033668, PMID:6280057 RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: beta Thalassemia ClinVar PMID:2071159, PMID:2272839, PMID:24450243, PMID:25525381 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
G Hbs1l HBS1-like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:16,819,170...16,896,234
Ensembl chr 1:16,819,170...16,896,219
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human)
RGD PMID:14703689, PMID:17160266, PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klf1 Kruppel like factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:12513847 RGD:11041746 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfr2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia
ClinVar Annotator: match by term: Thalassemia intermedia
ClinVar PMID:291719, PMID:1301199, PMID:1586746, PMID:1634236, PMID:1917531, PMID:2200760, PMID:2310691, PMID:2375912, PMID:2446680, PMID:2458145, PMID:2634667, PMID:2634674, PMID:2837728, PMID:2917193, PMID:2920213, PMID:3002527, PMID:3446652, PMID:6188062, PMID:6280057, PMID:7507641, PMID:7599641, PMID:7655036, PMID:7794779, PMID:8037185, PMID:8111050, PMID:8438884, PMID:8477263, PMID:8874232, PMID:8980256, PMID:9101288, PMID:9140720, PMID:10870887, PMID:11300352, PMID:11809258, PMID:11857738, PMID:11857746, PMID:12144056, PMID:12324499, PMID:12709369, PMID:14555318, PMID:17145605, PMID:17365006, PMID:18076350, PMID:18294253, PMID:18339318, PMID:18603555, PMID:19103851, PMID:19460936, PMID:20437613, PMID:20704537, PMID:21119755, PMID:21228398, PMID:21845419, PMID:22975760, PMID:25087612, PMID:25155404, PMID:25370867, PMID:25480500, PMID:25617386, PMID:25825561, PMID:25910213, PMID:26029792, PMID:26041423, PMID:26467025, PMID:27263053, PMID:27756326, PMID:27828729, PMID:28276871, PMID:28385923, PMID:28492532, PMID:29893155, PMID:31395865 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-plus-thalassemia
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS
ClinVar Annotator: match by term: Hemoglobin E - beta-thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN SHOWA-YAKUSHIJI
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI
ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar PMID:14973, PMID:49057, PMID:81926, PMID:88735, PMID:291719, PMID:429843, PMID:700140, PMID:721609, PMID:721611, PMID:721614, PMID:750553, PMID:893136, PMID:909565, PMID:932531, PMID:1052173, PMID:1112610, PMID:1177278, PMID:1244906, PMID:1301203, PMID:1353069, PMID:1374896, PMID:1376298, PMID:1384315, PMID:1390250, PMID:1420507, PMID:1427786, PMID:1428944, PMID:1428947, PMID:1463768, PMID:1483699, PMID:1487424, PMID:1517108, PMID:1517111, PMID:1550780, PMID:1581247, PMID:1586746, PMID:1610915, PMID:1634236, PMID:1634366, PMID:1634368, PMID:1680789, PMID:1705411, PMID:1709134, PMID:1729892, PMID:1732017, PMID:1734721, PMID:1740317, PMID:1769663, PMID:1787101, PMID:1802884, PMID:1850955, PMID:1856830, PMID:1873227, PMID:1917531, PMID:1960615, PMID:1967205, PMID:1971109, PMID:1985702, PMID:1986365, PMID:1986379, PMID:2001456, PMID:2004023, PMID:2005117, PMID:2014803, PMID:2018842, PMID:2079437, PMID:2123063, PMID:2197725, PMID:2200760, PMID:2200762, PMID:2207008, PMID:2239966, PMID:2265836, PMID:2291577, PMID:2296310, PMID:2298457, PMID:2298920, PMID:2306523, PMID:2307460, PMID:2310691, PMID:2346726, PMID:2375910, PMID:2375912, PMID:2393018, PMID:2393712, PMID:2412200, PMID:2430648, PMID:2434529, PMID:2439149, PMID:2446680, PMID:2458145, PMID:2467892, PMID:2539344, PMID:2563949, PMID:2577233, PMID:2579336, PMID:2582106, PMID:2606727, PMID:2634667, PMID:2634674, PMID:2703241, PMID:2703363, PMID:2703366, PMID:2713503, PMID:2736244, PMID:2753736, PMID:2775294, PMID:2822177, PMID:2837728, PMID:2867271, PMID:2875755, PMID:2887538, PMID:2888754, PMID:2891298, PMID:2893541, PMID:2895770, PMID:2898142, PMID:2898460, PMID:2898955, PMID:2903765, PMID:2915972, PMID:2917193, PMID:2920213, PMID:2987224, PMID:2987809, PMID:3002527, PMID:3014870, PMID:3021139, PMID:3021607, PMID:3024968, PMID:3031297, PMID:3048433, PMID:3114175, PMID:3115700, PMID:3170235, PMID:3354556, PMID:3382401, PMID:3387213, PMID:3403716, PMID:3417300, PMID:3422218, PMID:3457470, PMID:3462712, PMID:3557993, PMID:3557998, PMID:3623977, PMID:3671081, PMID:3683554, PMID:3690667, PMID:3752087, PMID:3821796, PMID:3828533, PMID:3840039, PMID:3859465, PMID:3942130, PMID:3955238, PMID:3957690, PMID:4018033, PMID:4078867, PMID:4129558, PMID:4232783, PMID:4351905, PMID:4361439, PMID:4991321, PMID:5050915, PMID:5129589, PMID:5481775, PMID:5609824, PMID:5619995, PMID:5658717, PMID:5672850, PMID:5791015, PMID:5863839, PMID:5915974, PMID:6019668, PMID:6021187, PMID:6033745, PMID:6054484, PMID:6086605, PMID:6162860, PMID:6166632, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6198908, PMID:6246994, PMID:6264391, PMID:6264477, PMID:6268660, PMID:6270663, PMID:6272289, PMID:6275383, PMID:6280057, PMID:6285354, PMID:6292840, PMID:6298782, PMID:6304979, PMID:6308558, PMID:6310991, PMID:6316272, PMID:6322284, PMID:6434492, PMID:6457059, PMID:6469698, PMID:6500990, PMID:6572978, PMID:6583683, PMID:6583702, PMID:6584911, PMID:6585381, PMID:6585831, PMID:6646217, PMID:6664996, PMID:6668188, PMID:6695908, PMID:6714226, PMID:6733281, PMID:6826539, PMID:6852251, PMID:6859036, PMID:6896219, PMID:6985481, PMID:7076659, PMID:7104238, PMID:7137165, PMID:7151176, PMID:7173395, PMID:7177196, PMID:7204096, PMID:7229029, PMID:7312624, PMID:7338475, PMID:7395858, PMID:7507641, PMID:7522523, PMID:7558878, PMID:7599641, PMID:7655036, PMID:7668219, PMID:7668221, PMID:7683931, PMID:7794779, PMID:7795641, PMID:7852087, PMID:7908281, PMID:7909640, PMID:7993409, PMID:8091935, PMID:8095930, PMID:8112743, PMID:8161774, PMID:8172199, PMID:8199027, PMID:8199597, PMID:8201467, PMID:8262525, PMID:8330981, PMID:8373896, PMID:8435318, PMID:8438884, PMID:8462981, PMID:8477263, PMID:8518184, PMID:8602996, PMID:8619407, PMID:8718703, PMID:8839873, PMID:8874232, PMID:8917506, PMID:8978308, PMID:8980256, PMID:9028827, PMID:9048934, PMID:9101288, PMID:9113933, PMID:9140720, PMID:9160698, PMID:9163586, PMID:9223924, PMID:9225979, PMID:9340427, PMID:9342003, PMID:9401495, PMID:9427726, PMID:9450794, PMID:9490703, PMID:9495372, PMID:9556665, PMID:9653159, PMID:9834244, PMID:9845707, PMID:9859938, PMID:9875660, PMID:9949622, PMID:10081986, PMID:10203101, PMID:10335989, PMID:10367791, PMID:10520021, PMID:10583251, PMID:10602954, PMID:10606872, PMID:10612821, PMID:10815781, PMID:10861818, PMID:11001883, PMID:11179419, PMID:11300348, PMID:11425418, PMID:11545326, PMID:11559932, PMID:11713529, PMID:11741197, PMID:11791878, PMID:11830454, PMID:11857738, PMID:11857746, PMID:11880644, PMID:11939510, PMID:12000828, PMID:12124399, PMID:12144056, PMID:12144057, PMID:12149194, PMID:12172041, PMID:12210807, PMID:12324499, PMID:12368169, PMID:12383672, PMID:12403491, PMID:12488606, PMID:12709369, PMID:12764548, PMID:12850492, PMID:12955718, PMID:13066514, PMID:13108995, PMID:13115700, PMID:13369537, PMID:13464827, PMID:13590135, PMID:13618691, PMID:13685866, PMID:13716853, PMID:13852872, PMID:13872094, PMID:14081243, PMID:14160125, PMID:14282052, PMID:14405428, PMID:14492555, PMID:14555318, PMID:14576320, PMID:14613965, PMID:14649318, PMID:14715623, PMID:14734204, PMID:14808148, PMID:15000665, PMID:15108284, PMID:15114532, PMID:15181845, PMID:15257926, PMID:15278762, PMID:15315794, PMID:15352994, PMID:15470211, PMID:15481886, PMID:15481893, PMID:15481896, PMID:15654898, PMID:15658184, PMID:15697092, PMID:15761692, PMID:15768552, PMID:15973412, PMID:16001361, PMID:16044458, PMID:16103715, PMID:16114182, PMID:16175509, PMID:16291734, PMID:16311287, PMID:16370495, PMID:16470532, PMID:16540414, PMID:16540415, PMID:16732578, PMID:16750922, PMID:16821247, PMID:17008283, PMID:17145605, PMID:17278112, PMID:17287491, PMID:17331080, PMID:17365006, PMID:17486493, PMID:17486505, PMID:17565724, PMID:17655700, PMID:17774955, PMID:17932132, PMID:17949282, PMID:17994378, PMID:18024613, PMID:18048408, PMID:18056002, PMID:18076350, PMID:18081706, PMID:18096416, PMID:18192399, PMID:18266208, PMID:18294253, PMID:18339318, PMID:18403562, PMID:18495504, PMID:18523401, PMID:18568278, PMID:18603555, PMID:18619001, PMID:18976160, PMID:19000664, PMID:19061217, PMID:19092326, PMID:19103851, PMID:19205970, PMID:19254853, PMID:19372376, PMID:19429541, PMID:19440680, PMID:19460936, PMID:19631632, PMID:19657836, PMID:19657842, PMID:19727720, PMID:19758965, PMID:19841268, PMID:19843386, PMID:19958184, PMID:19958185, PMID:19960060, PMID:20035706, PMID:20110664, PMID:20113284, PMID:20132300, PMID:20233970, PMID:20301551, PMID:20301599, PMID:20305663, PMID:20353354, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20492708, PMID:20524821, PMID:20642331, PMID:20704537, PMID:20737602, PMID:20788973, PMID:20854126, PMID:20861612, PMID:20954261, PMID:21119755, PMID:21131035, PMID:21194254, PMID:21194265, PMID:21228398, PMID:21250876, PMID:21302591, PMID:21389146, PMID:21417574, PMID:21423179, PMID:21509314, PMID:21529713, PMID:21599435, PMID:21732929, PMID:21797702, PMID:21797703, PMID:21931510, PMID:22010933, PMID:22028795, PMID:22075726, PMID:22110956, PMID:22145566, PMID:22188014, PMID:22200002, PMID:22260787, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22563936, PMID:22625666, PMID:22690826, PMID:22851993, PMID:22975760, PMID:23001606, PMID:23162295, PMID:23234478, PMID:23297836, PMID:23321370, PMID:23348723, PMID:23383304, PMID:23425204, PMID:23457306, PMID:23590658, PMID:23637309, PMID:23647352, PMID:23651435, PMID:23729725, PMID:23806067, PMID:24033266, PMID:24052702, PMID:24055728, PMID:24080465, PMID:24086942, PMID:24099628, PMID:24200214, PMID:24245819, PMID:24265529, PMID:24368026, PMID:24369358, PMID:24401016, PMID:24493127, PMID:24581976, PMID:24616059, PMID:24616209, PMID:24719849, PMID:24814631, PMID:24857915, PMID:24880717, PMID:25000193, PMID:25016698, PMID:25023084, PMID:25023085, PMID:25087612, PMID:25089872, PMID:25113778, PMID:25130136, PMID:25135424, PMID:25155404, PMID:25244406, PMID:25332589, PMID:25370867, PMID:25408857, PMID:25412720, PMID:25480500, PMID:25525159, PMID:25525381, PMID:25572186, PMID:25572187, PMID:25617386, PMID:25666204, PMID:25669128, PMID:25677748, PMID:25741868, PMID:25754248, PMID:25818823, PMID:25825561, PMID:25849334, PMID:25856402, PMID:25910213, PMID:25976460, PMID:26029792, PMID:26041423, PMID:26044735, PMID:26076395, PMID:26076396, PMID:26079343, PMID:26084319, PMID:26097845, PMID:26193974, PMID:26275168, PMID:26290351, PMID:26291967, PMID:26351951, PMID:26372199, PMID:26372288, PMID:26418075, PMID:26436569, PMID:26467025, PMID:26554253, PMID:26554862, PMID:26715484, PMID:26877226, PMID:26956563, PMID:27117567, PMID:27117572, PMID:27207683, PMID:27251090, PMID:27263053, PMID:27408413, PMID:27427187, PMID:27690257, PMID:27756326, PMID:27765567, PMID:27821015, PMID:27828729, PMID:27829298, PMID:28276871, PMID:28356267, PMID:28366028, PMID:28379995, PMID:28385923, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:28865746, PMID:29157184, PMID:29484903, PMID:29695942, PMID:29893155, PMID:30173596, PMID:30311386, PMID:31395865, PMID:31714438, PMID:32581362, PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by term: Cd59 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612300
OMIM
ClinVar
PMID:1382994, PMID:23149847, PMID:24382084, PMID:25741868 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:224120
CTD
ClinVar
PMID:12434312, PMID:16098079 RGD:1600473, RGD:11081155 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Klf1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:112,293,388...112,451,677
Ensembl chr 9:112,293,388...112,451,677
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD
ClinVar
PMID:19561605, PMID:24033266, PMID:25741868 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:12434312, PMID:12825070, PMID:16098079, PMID:16141353, PMID:16754775, PMID:18575862, PMID:20301759, PMID:22407294, PMID:23065504, PMID:25741868, PMID:25741869, PMID:27827297, PMID:28132690, PMID:28492532, PMID:29901818 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO OMIM NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib OMIM
ClinVar
PMID:9220189, PMID:16643456, PMID:23716552, PMID:25741868, PMID:29885034, PMID:31191338 NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II
ClinVar Annotator: match by term: HEMPAS anemia
ClinVar Annotator: match by term: CDA II
ClinVar
OMIM
PMID:19561605, PMID:19621418, PMID:20015893, PMID:20941788, PMID:21252497, PMID:21850656, PMID:22208203, PMID:22428539, PMID:23453696, PMID:25044164, PMID:25741868, PMID:26522472, PMID:28492532, PMID:29031773, PMID:29901818, PMID:30311386, PMID:32581362 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar
OMIM
PMID:1659863, PMID:21055716, PMID:23125034, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:8499925, PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar PMID:3839771, PMID:5713642, PMID:6877904, PMID:7852083, PMID:26467025, PMID:1520632 RGD:1600886 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:99,612,993...99,655,753
Ensembl chr 6:99,625,306...99,655,362
JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 5:153,197,416...153,232,009
Ensembl chr 5:153,197,459...153,232,687
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:16227998, PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868, PMID:26002053 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647, PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISS OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 MouseDO NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD PMID:4125296, PMID:10666231, PMID:1999409, PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
MouseDO PMID:17041899, PMID:8417789, PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
RGD PMID:7655856, PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
RGD PMID:7949104, PMID:11054094, PMID:8161798, PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Xerocytosis hereditary ClinVar PMID:21944700, PMID:22529292, PMID:23479567, PMID:25741868 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828, PMID:9827909, PMID:16898969, PMID:17253968, PMID:21944700, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868, PMID:29576450 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 ClinVar
OMIM
PMID:652816, PMID:687829, PMID:4851153, PMID:6473461, PMID:26148990, PMID:26178367, PMID:26198474 NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:49057, PMID:81926, PMID:88735, PMID:750553, PMID:909565, PMID:1177278, PMID:1186896, PMID:1244906, PMID:1301203, PMID:1353069, PMID:1376298, PMID:1390250, PMID:1427786, PMID:1428944, PMID:1463768, PMID:1483699, PMID:1610915, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1769663, PMID:1802884, PMID:1917531, PMID:1967205, PMID:1986365, PMID:2004023, PMID:2079437, PMID:2200760, PMID:2296310, PMID:2298457, PMID:2307460, PMID:2446680, PMID:2467892, PMID:2577233, PMID:2579336, PMID:2582106, PMID:2713503, PMID:2867271, PMID:2887538, PMID:2888754, PMID:2891298, PMID:2893541, PMID:2895770, PMID:2898142, PMID:2898460, PMID:2898955, PMID:2903765, PMID:3048433, PMID:3170235, PMID:3354556, PMID:3422218, PMID:3462712, PMID:3557993, PMID:3557998, PMID:3623977, PMID:3690667, PMID:3752087, PMID:3821796, PMID:3957690, PMID:4078867, PMID:4232783, PMID:4991321, PMID:5050915, PMID:5672850, PMID:6019668, PMID:6162860, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6264391, PMID:6264477, PMID:6268660, PMID:6270663, PMID:6272289, PMID:6280057, PMID:6285354, PMID:6304979, PMID:6322284, PMID:6434492, PMID:6457059, PMID:6583683, PMID:6583702, PMID:6584911, PMID:6585831, PMID:6695908, PMID:6714226, PMID:6896219, PMID:7151176, PMID:7312624, PMID:7338475, PMID:7522523, PMID:7558878, PMID:7668219, PMID:7993409, PMID:8091935, PMID:8095930, PMID:8199597, PMID:8330981, PMID:8373896, PMID:8462981, PMID:8602996, PMID:8619407, PMID:8917506, PMID:9048934, PMID:9101288, PMID:9140720, PMID:9401495, PMID:9490703, PMID:9859938, PMID:10335989, PMID:10602954, PMID:10612821, PMID:11300348, PMID:11545326, PMID:11559932, PMID:11741197, PMID:11830454, PMID:11857746, PMID:11880644, PMID:11939510, PMID:12124399, PMID:12144056, PMID:12144057, PMID:12403491, PMID:12709369, PMID:12764548, PMID:13066514, PMID:13115700, PMID:13369537, PMID:13464827, PMID:13590135, PMID:13852872, PMID:13872094, PMID:14160125, PMID:14576320, PMID:15108284, PMID:15654898, PMID:16001361, PMID:16291734, PMID:16311287, PMID:16370495, PMID:16470532, PMID:16540414, PMID:17287491, PMID:17331080, PMID:17365006, PMID:17932132, PMID:18048408, PMID:18192399, PMID:18294253, PMID:18603555, PMID:19000664, PMID:19061217, PMID:19254853, PMID:19429541, PMID:19657842, PMID:19727720, PMID:19758965, PMID:19958184, PMID:19958185, PMID:20110664, PMID:20132300, PMID:20301551, PMID:20301599, PMID:20305663, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20492708, PMID:20642331, PMID:20704537, PMID:20861612, PMID:20954261, PMID:21119755, PMID:21131035, PMID:21194265, PMID:21228398, PMID:21302591, PMID:21389146, PMID:21417574, PMID:21529713, PMID:21797703, PMID:22010933, PMID:22028795, PMID:22075726, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22625666, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:23647352, PMID:23729725, PMID:24033266, PMID:24055728, PMID:24099628, PMID:24245819, PMID:24401016, PMID:24493127, PMID:24616059, PMID:24814631, PMID:24857915, PMID:25016698, PMID:25023084, PMID:25023085, PMID:25087612, PMID:25089872, PMID:25113778, PMID:25155404, PMID:25332589, PMID:25525159, PMID:25572186, PMID:25666204, PMID:25741868, PMID:25818823, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26084319, PMID:26097845, PMID:26193974, PMID:26275168, PMID:26372199, PMID:26436569, PMID:26467025, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27821015, PMID:28356267, PMID:28366028, PMID:28379995, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:28865746, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286, PMID:1742490, PMID:3401592, PMID:11939506, PMID:12402333, PMID:15921167, PMID:16434382 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Sardinian hpfh
ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:811241, PMID:1373683, PMID:1374633, PMID:1379347, PMID:1487421, PMID:1698280, PMID:1704803, PMID:1990287, PMID:2224140, PMID:2276623, PMID:2417646, PMID:2423160, PMID:2430647, PMID:2441598, PMID:2451123, PMID:2452784, PMID:2469505, PMID:3033668, PMID:3181130, PMID:3377986, PMID:3401591, PMID:9703422 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar PMID:1301204, PMID:1309671, PMID:1398286, PMID:1515647, PMID:1742490, PMID:2018846, PMID:3401592, PMID:3676110, PMID:8118467, PMID:8330984, PMID:8364213, PMID:11939506, PMID:12402333, PMID:16434382, PMID:18221842, PMID:20678137, PMID:23215833, PMID:23806011, PMID:24601842, PMID:24985928, PMID:27387985 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:9207478, PMID:9312167, PMID:9854053, PMID:10926824, PMID:10942416, PMID:12087557, PMID:12938018, PMID:15211439, PMID:22126643, PMID:25741868 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Elliptocytosis 1
ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
ClinVar Annotator: match by OMIM:611804
OMIM
ClinVar
PMID:1430200, PMID:2384597, PMID:2384598, PMID:3134067, PMID:3194408, PMID:3722387, PMID:3965051, PMID:6894932, PMID:7255153, PMID:7627190, PMID:8423235, PMID:25741868, PMID:28492532 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
ClinVar Annotator: match by OMIM:130600
OMIM
ClinVar
PMID:1191563, PMID:1541680, PMID:1638030, PMID:1642244, PMID:1845156, PMID:2043465, PMID:2328319, PMID:2346729, PMID:2384601, PMID:2567189, PMID:2568861, PMID:2794061, PMID:2895677, PMID:3597773, PMID:3708157, PMID:3922449, PMID:4077050, PMID:7074218, PMID:8081008, PMID:8434258, PMID:8435324, PMID:8444470, PMID:8490186, PMID:15071791, PMID:16150946, PMID:18218854, PMID:18783249, PMID:19593814, PMID:21212007, PMID:23241237, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Elliptocytosis 3
ClinVar Annotator: match by term: Spectrin providence
ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
ClinVar Annotator: match by term: Spectrin rouen
ClinVar
OMIM
PMID:1391962, PMID:2056132, PMID:7883966, PMID:8844207, PMID:9075575, PMID:9163587, PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442, PMID:28492532, PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6pd a-
ClinVar Annotator: match by term: G6PD MALAGA
ClinVar Annotator: match by term: G6PD AURES
CTD
ClinVar
OMIM
PMID:5448, PMID:16832, PMID:848857, PMID:1303173, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999409, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8241497, PMID:8447319, PMID:8471773, PMID:8490627, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9427729, PMID:9589612, PMID:9674740, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:10782016, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12130518, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19422023, PMID:19589177, PMID:19594365, PMID:19632868, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22906837, PMID:22963789, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27519946, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by synonym: Hemolytic anemia due to G6PD deficiency
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5448, PMID:16832, PMID:472761, PMID:848857, PMID:1303173, PMID:1303182, PMID:1536798, PMID:1551674, PMID:1562739, PMID:1631957, PMID:1805484, PMID:1924316, PMID:1972698, PMID:1978554, PMID:1978555, PMID:1999339, PMID:2253938, PMID:2255919, PMID:2263506, PMID:2321910, PMID:2503817, PMID:2572288, PMID:2602358, PMID:2633878, PMID:2836867, PMID:2849540, PMID:2895981, PMID:2912069, PMID:3338798, PMID:3393536, PMID:3446582, PMID:4125296, PMID:4154774, PMID:4283789, PMID:4359638, PMID:4388132, PMID:4435794, PMID:4728291, PMID:4837298, PMID:4974311, PMID:5305539, PMID:5369703, PMID:5485383, PMID:5673160, PMID:5770172, PMID:6015571, PMID:6344088, PMID:6698555, PMID:6714978, PMID:6714986, PMID:7129446, PMID:7160841, PMID:7203486, PMID:7283560, PMID:7327562, PMID:7390473, PMID:7789945, PMID:7806085, PMID:7825590, PMID:7947239, PMID:7947250, PMID:7949118, PMID:7959686, PMID:8118045, PMID:8447319, PMID:8471773, PMID:8533762, PMID:8537082, PMID:8611726, PMID:8807321, PMID:8807322, PMID:8860013, PMID:8956035, PMID:9299858, PMID:9342374, PMID:9410474, PMID:9427729, PMID:9589612, PMID:9858856, PMID:10221015, PMID:10502785, PMID:10643148, PMID:10666231, PMID:10734064, PMID:11024211, PMID:11112389, PMID:11243133, PMID:11400791, PMID:11445808, PMID:11499668, PMID:11601226, PMID:11793482, PMID:11852882, PMID:12028056, PMID:12215013, PMID:12367584, PMID:12497642, PMID:12737938, PMID:12768444, PMID:14278484, PMID:14505231, PMID:15183620, PMID:15223006, PMID:15315792, PMID:15349799, PMID:15502081, PMID:15735168, PMID:15906717, PMID:15914531, PMID:16088936, PMID:16119988, PMID:16136268, PMID:16143877, PMID:16155737, PMID:16329560, PMID:16356170, PMID:16528451, PMID:16607506, PMID:16777444, PMID:16927025, PMID:17587269, PMID:17726510, PMID:17959407, PMID:18043863, PMID:18046504, PMID:18177777, PMID:18270558, PMID:18329300, PMID:19112496, PMID:19589177, PMID:19594365, PMID:19690618, PMID:20007901, PMID:20203002, PMID:20236109, PMID:20582980, PMID:20602793, PMID:20621077, PMID:21153663, PMID:21302115, PMID:21446359, PMID:21479984, PMID:21677401, PMID:21874587, PMID:21931771, PMID:21989994, PMID:22018328, PMID:22165289, PMID:22171972, PMID:22237549, PMID:22293322, PMID:22906047, PMID:22963798, PMID:22992668, PMID:23006493, PMID:23144702, PMID:23365477, PMID:23479361, PMID:23757202, PMID:23926329, PMID:23965028, PMID:24033266, PMID:24101478, PMID:24460025, PMID:24505519, PMID:24586352, PMID:25141282, PMID:25201310, PMID:25326637, PMID:25440321, PMID:25541721, PMID:25548459, PMID:25741868, PMID:25775246, PMID:26060661, PMID:26226515, PMID:26633385, PMID:26823837, PMID:26829728, PMID:27040960, PMID:27053284, PMID:27213370, PMID:27287612, PMID:27535533, PMID:27880809, PMID:28195434, PMID:28492532, PMID:29072585, PMID:29339739, PMID:30045279, PMID:30097005, PMID:30311386, PMID:30315739, PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)
RGD PMID:15718915, PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by OMIM:230450 OMIM
ClinVar
PMID:10515893 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO OMIM NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697, PMID:18382993, PMID:20522425, PMID:21327084, PMID:24033266, PMID:25348816, PMID:25741868, PMID:26467025, PMID:27336722, PMID:27830109, PMID:27875746, PMID:28492532, PMID:30311386, PMID:21327084 RGD:9588626 NCBI chr13:100,431,390...100,450,209 JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemias
ClinVar Annotator: match by OMIM:140700
OMIM
CTD
ClinVar
PMID:2833478, PMID:5639009, PMID:7558871, PMID:25741868 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:49057, PMID:81926, PMID:88735, PMID:186485, PMID:711920, PMID:721609, PMID:909565, PMID:1164567, PMID:1173714, PMID:1301203, PMID:1376298, PMID:1390250, PMID:1427786, PMID:1463768, PMID:1483699, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1769663, PMID:1802884, PMID:1917531, PMID:1967205, PMID:1986365, PMID:2004023, PMID:2005117, PMID:2200760, PMID:2296310, PMID:2298457, PMID:2446680, PMID:2577233, PMID:2579336, PMID:2582106, PMID:2599881, PMID:2713503, PMID:2752127, PMID:2867271, PMID:2888754, PMID:2891298, PMID:2893541, PMID:2898142, PMID:2898460, PMID:2898955, PMID:2903765, PMID:3048433, PMID:3260032, PMID:3354556, PMID:3422218, PMID:3462712, PMID:3557999, PMID:3690667, PMID:3752087, PMID:3768534, PMID:3781865, PMID:3821796, PMID:3937827, PMID:4232783, PMID:4281476, PMID:4407364, PMID:4514958, PMID:4525423, PMID:4808645, PMID:4942314, PMID:5059650, PMID:5079107, PMID:5420592, PMID:5698750, PMID:5785231, PMID:5856115, PMID:5869485, PMID:5881530, PMID:6029950, PMID:6050213, PMID:6067323, PMID:6162860, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6264391, PMID:6264477, PMID:6268660, PMID:6270663, PMID:6272289, PMID:6280057, PMID:6285354, PMID:6304979, PMID:6457059, PMID:6583683, PMID:6583702, PMID:6584911, PMID:6585831, PMID:6714226, PMID:6859036, PMID:6896219, PMID:7151176, PMID:7312624, PMID:7357091, PMID:7522523, PMID:7558878, PMID:7668219, PMID:7860732, PMID:7864023, PMID:7993409, PMID:8095930, PMID:8199597, PMID:8226093, PMID:8330981, PMID:8373896, PMID:8462981, PMID:8602996, PMID:8619407, PMID:8704193, PMID:8917506, PMID:9048934, PMID:9101288, PMID:9140720, PMID:9401495, PMID:9490703, PMID:9859938, PMID:10335989, PMID:10602954, PMID:10612821, PMID:10975446, PMID:11545326, PMID:11559932, PMID:11741197, PMID:11830454, PMID:11857746, PMID:11880644, PMID:11939506, PMID:11939510, PMID:12124399, PMID:12144057, PMID:12764548, PMID:13066514, PMID:13115700, PMID:13369537, PMID:13464827, PMID:13852872, PMID:14198723, PMID:14576320, PMID:15108284, PMID:15654898, PMID:16001361, PMID:16291734, PMID:16311287, PMID:16470532, PMID:17287491, PMID:17331080, PMID:17365006, PMID:18048408, PMID:18192399, PMID:18294253, PMID:18603555, PMID:19000664, PMID:19061217, PMID:19254853, PMID:19429541, PMID:19758965, PMID:19958185, PMID:20132300, PMID:20301551, PMID:20301599, PMID:20305663, PMID:20309827, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20492708, PMID:20642331, PMID:20704537, PMID:20861612, PMID:20954261, PMID:21119755, PMID:21131035, PMID:21228398, PMID:21389146, PMID:21417574, PMID:21523319, PMID:21529713, PMID:21797703, PMID:22010933, PMID:22028795, PMID:22075726, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22625666, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:23647352, PMID:23729725, PMID:24033266, PMID:24493127, PMID:24857915, PMID:25023084, PMID:25023085, PMID:25087612, PMID:25089872, PMID:25155404, PMID:25332589, PMID:25525159, PMID:25572186, PMID:25741868, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26097845, PMID:26193974, PMID:26275168, PMID:26372199, PMID:26467025, PMID:27207683, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27821015, PMID:28356267, PMID:28366028, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008, PMID:2599881 RGD:1600889 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by OMIM:614034 OMIM
ClinVar
PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789, PMID:2239966, PMID:2412200, PMID:2888754, PMID:7137165, PMID:7229029, PMID:8201467, PMID:9556665, PMID:11001883, PMID:11713529, PMID:13108995, PMID:13115700, PMID:13618691, PMID:13685866, PMID:14405428, PMID:14492555, PMID:14613965, PMID:14808148, PMID:15000665, PMID:15973412, PMID:16175509, PMID:17774955, PMID:18048408, PMID:19061217, PMID:20301551, PMID:20305663, PMID:22075726, PMID:23297836, PMID:25741868, PMID:26372199, PMID:27117572, PMID:28492532, PMID:2239966 RGD:1600890 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
ClinVar Annotator: match by term: Hemoglobin D disease
ClinVar PMID:750553, PMID:1177278, PMID:1244906, PMID:2079437, PMID:2307460, PMID:2887538, PMID:2895770, PMID:3557993, PMID:3557998, PMID:3838975, PMID:4078867, PMID:4991321, PMID:5050915, PMID:5672850, PMID:6322284, PMID:7338475, PMID:12403491, PMID:12709369, PMID:13590135, PMID:13872094, PMID:14160125, PMID:16370495, PMID:16540414, PMID:19958184, PMID:20110664, PMID:20301551, PMID:20437613, PMID:21194265, PMID:22028795, PMID:24245819, PMID:24616059, PMID:24814631, PMID:25666204, PMID:25741868, PMID:25818823, PMID:26467025, PMID:28492532 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:700140, PMID:893136, PMID:1960615, PMID:3031297, PMID:4351905, PMID:5658717, PMID:5863839, PMID:6166632, PMID:6198908, PMID:6275383, PMID:6280057, PMID:6859036, PMID:7177196, PMID:7395858, PMID:8839873, PMID:9653159, PMID:11425418, PMID:12149194, PMID:12850492, PMID:13716853, PMID:14734204, PMID:15114532, PMID:15470211, PMID:15481886, PMID:16114182, PMID:16750922, PMID:17278112, PMID:18024613, PMID:18568278, PMID:19440680, PMID:19841268, PMID:20301599, PMID:20492708, PMID:21732929, PMID:22028795, PMID:22260787, PMID:24368026, PMID:24581976, PMID:25370867, PMID:25741868, PMID:26554862, PMID:28492532 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:8237999, PMID:9029003, PMID:10569720, PMID:19636270, PMID:20147853, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074, PMID:4413625, PMID:5851873, PMID:5856115, PMID:5996551, PMID:6248489, PMID:7663000, PMID:7713749, PMID:13509426, PMID:13634986, PMID:13897827, PMID:13911805, PMID:14343445, PMID:14452533, PMID:15929117, PMID:18105244, PMID:19727720, PMID:20324533 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN ADANA
ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2
ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO
ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar PMID:646867, PMID:740406, PMID:943846, PMID:4503919, PMID:4986187, PMID:5452727, PMID:8237999, PMID:9029003, PMID:10569720, PMID:11558897, PMID:12403494, PMID:13500096, PMID:13536534, PMID:13863929, PMID:15481890, PMID:16590776, PMID:19636270, PMID:20147853, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta severity ISO ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN TENDE
ClinVar Annotator: match by term: HEMOGLOBIN HIKARI
ClinVar Annotator: match by term: HEMOGLOBIN J (LOME)
ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT
ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO
ClinVar Annotator: match by term: HEMOGLOBIN SAALE
ClinVar Annotator: match by term: HEMOGLOBIN TYNE
ClinVar Annotator: match by term: HEMOGLOBIN YUSA
ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH
ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH)
ClinVar Annotator: match by term: HEMOGLOBIN WACO
ClinVar Annotator: match by term: HEMOGLOBIN DEACONESS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8114, PMID:20942, PMID:88735, PMID:598514, PMID:747178, PMID:891976, PMID:893132, PMID:1002699, PMID:1117598, PMID:1244915, PMID:1374896, PMID:1384315, PMID:1428943, PMID:1463768, PMID:1520612, PMID:1536956, PMID:1634360, PMID:1686262, PMID:1705411, PMID:1769663, PMID:1777603, PMID:1787097, PMID:1814858, PMID:1850955, PMID:1856830, PMID:1873227, PMID:1951318, PMID:1954392, PMID:1974422, PMID:1986379, PMID:2014803, PMID:2018842, PMID:2197725, PMID:2283301, PMID:2291577, PMID:2298920, PMID:2375910, PMID:2384310, PMID:2399911, PMID:2458145, PMID:2467892, PMID:2599881, PMID:2703367, PMID:2752127, PMID:2901867, PMID:3006832, PMID:3024968, PMID:3114175, PMID:3391614, PMID:3403716, PMID:3457470, PMID:3557996, PMID:3583764, PMID:3588028, PMID:3756101, PMID:3768534, PMID:3780671, PMID:3942130, PMID:3955238, PMID:4514958, PMID:4942314, PMID:4999133, PMID:5059650, PMID:5079107, PMID:5120550, PMID:5577462, PMID:5684629, PMID:5773089, PMID:5782115, PMID:5791730, PMID:5856115, PMID:5881530, PMID:5919752, PMID:6029950, PMID:6030043, PMID:6038175, PMID:6050213, PMID:6067323, PMID:6086605, PMID:6249934, PMID:6469698, PMID:6526653, PMID:6646217, PMID:6664996, PMID:6668188, PMID:6714226, PMID:6733281, PMID:6874374, PMID:6879181, PMID:7104238, PMID:7158624, PMID:7173395, PMID:7295768, PMID:7353956, PMID:7390864, PMID:7407240, PMID:7437334, PMID:7530406, PMID:7558874, PMID:7558878, PMID:7632967, PMID:7693620, PMID:7852087, PMID:7852088, PMID:7860732, PMID:7864023, PMID:7928379, PMID:8081396, PMID:8112743, PMID:8199027, PMID:8225319, PMID:8226093, PMID:8226094, PMID:8435318, PMID:8619407, PMID:8701949, PMID:8718703, PMID:9028819, PMID:9101280, PMID:9101288, PMID:9140720, PMID:9163586, PMID:9223924, PMID:9340427, PMID:9401495, PMID:9495372, PMID:9625056, PMID:9792288, PMID:9859935, PMID:10081984, PMID:10490144, PMID:10770934, PMID:10815781, PMID:10840054, PMID:11532628, PMID:11722417, PMID:11791873, PMID:11857738, PMID:11857746, PMID:12368169, PMID:12403498, PMID:12709369, PMID:12752111, PMID:12779270, PMID:12779277, PMID:12955718, PMID:13911808, PMID:14197371, PMID:14198723, PMID:14734204, PMID:15008262, PMID:15108284, PMID:15315794, PMID:15481885, PMID:15481896, PMID:15658193, PMID:15761692, PMID:16466947, PMID:16732578, PMID:16987801, PMID:17007829, PMID:17008283, PMID:17606453, PMID:17949282, PMID:17994378, PMID:18096416, PMID:18294253, PMID:18339318, PMID:18432506, PMID:18498386, PMID:18654889, PMID:18954999, PMID:18976160, PMID:19205970, PMID:19254853, PMID:19429541, PMID:19437135, PMID:19460936, PMID:19486366, PMID:20113284, PMID:20132300, PMID:20309827, PMID:20395516, PMID:20437613, PMID:20524821, PMID:20704537, PMID:21119755, PMID:21232998, PMID:21389146, PMID:21423179, PMID:21523319, PMID:21599435, PMID:21797703, PMID:22010933, PMID:22074124, PMID:22180324, PMID:22239493, PMID:22392582, PMID:22675570, PMID:22975760, PMID:23321370, PMID:23383304, PMID:23510507, PMID:23525874, PMID:23590330, PMID:23590658, PMID:24265529, PMID:24450243, PMID:24719849, PMID:24828949, PMID:24880717, PMID:25000193, PMID:25087612, PMID:25089872, PMID:25332589, PMID:25408857, PMID:25412720, PMID:25741868, PMID:25905082, PMID:26076395, PMID:26076396, PMID:26372288, PMID:26418075, PMID:26467025, PMID:26522187, PMID:26635043, PMID:26901597, PMID:26948378, PMID:26956563, PMID:27117567, PMID:27207683, PMID:27263053, PMID:27756326, PMID:27765567, PMID:27821015, PMID:27828729, PMID:28125089, PMID:28366028, PMID:28385923, PMID:28391758, PMID:28492532, PMID:28603845, PMID:28671035, PMID:29464999, PMID:31714438, PMID:24930900 RGD:10449038 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
Hemolytic Anemia due to Adenylate Kinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Adenylate kinase deficiency, hemolytic anemia due to
ClinVar Annotator: match by OMIM:612631
OMIM
ClinVar
PMID:2542324, PMID:9432020, PMID:10233365, PMID:12649162, PMID:15315793, PMID:24033266, PMID:28492532 NCBI chr 3:11,652,143...11,659,135 JBrowse link
Hemolytic Anemia due to Glutathione Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO ClinVar Annotator: match by term: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY ClinVar
OMIM
PMID:435643, PMID:947404, PMID:17185460 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to OMIM
ClinVar
PMID:5476481, PMID:8896573, PMID:11167850, PMID:15717202 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
RGD PMID:14615110, PMID:16189652, PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfh complement factor H ISO
ISS
DNA:mutations, polymorphisms:promoter, exon:multiple
OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926
MouseDO PMID:14583443 RGD:11041164 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632, PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hereditary elliptocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO
ISS
ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar
MouseDO
PMID:17994571 RGD:11252097 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
PMID:1737855, PMID:9312167, PMID:25741868, PMID:7742553 RGD:13208947 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS
DNA:insertion:intron:
ClinVar Annotator: match by term: Ovalocytosis
OMIM:130600 | OMIM:611804
ClinVar Annotator: match by term: Hereditary elliptocytosis
ClinVar
MouseDO
PMID:28492532, PMID:11154235 RGD:11059523 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Hereditary elliptocytosis
CTD
ClinVar
PMID:1975598, PMID:19538529, PMID:25741868, PMID:28492532 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis
ClinVar Annotator: match by OMIM:266140
OMIM
ClinVar
PMID:1191563, PMID:1541680, PMID:1638030, PMID:1679439, PMID:1845156, PMID:2043465, PMID:2328319, PMID:2346729, PMID:2568862, PMID:3708157, PMID:3785322, PMID:4077050, PMID:6236232, PMID:7074218, PMID:8081008, PMID:8370581, PMID:8435324, PMID:8444470, PMID:9192783, PMID:9746802, PMID:15071791, PMID:16150946, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Klf1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532, PMID:19538529 RGD:11059526 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
PMID:1486040, PMID:7883994, PMID:8640229, PMID:9590147, PMID:11102985, PMID:11167760, PMID:12899723, PMID:15071790, PMID:16037067, PMID:17327413, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736, PMID:3654760, PMID:6215583, PMID:7883966, PMID:8102379, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
PMID:1638030, PMID:3785322, PMID:8081008, PMID:8370581, PMID:8941647, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
PMID:893429, PMID:1378323, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7530501, PMID:7812009, PMID:8011524, PMID:8206915, PMID:8282779, PMID:8343110, PMID:8471774, PMID:8547122, PMID:8567957, PMID:8608262, PMID:8704215, PMID:9207478, PMID:9312167, PMID:9734643, PMID:9973643, PMID:10745622, PMID:10942416, PMID:11155072, PMID:11380459, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976, PMID:2386772, PMID:7772513, PMID:7803799, PMID:8319790, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
Hexokinase Deficiency Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia ClinVar PMID:6848140, PMID:7655856, PMID:12393545 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:99,886,373...100,072,674
NCBI chr13:101,936,210...101,973,640
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Nonimmune hydrops fetalis
ClinVar PMID:1702266, PMID:7573038, PMID:7680524, PMID:8644704, PMID:9099834, PMID:19224584, PMID:25741868, PMID:26036949, PMID:28492532, PMID:29620724, PMID:30311386 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868, PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676, PMID:25205138, PMID:26036949, PMID:26841830, PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
ClinVar
OMIM
PMID:10744719, PMID:11161790, PMID:11347906, PMID:12196208, PMID:12717432, PMID:15465497, PMID:15548577, PMID:16704730, PMID:17021036, PMID:17964244, PMID:19616629, PMID:20623620, PMID:22491945, PMID:22542183, PMID:23230003, PMID:24267886, PMID:24810580, PMID:25363760, PMID:25533962, PMID:25741868, PMID:25938782, PMID:25979662, PMID:26182416, PMID:27453576, PMID:28589569, PMID:28891213, PMID:28960836 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125, PMID:29905864 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO OMIM NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
ClinVar Annotator: match by OMIM:609628
OMIM
ClinVar
PMID:2809904, PMID:10969284, PMID:11795677, PMID:15994876, PMID:17330256, PMID:18409191, PMID:20032092, PMID:20645851, PMID:23087183, PMID:24033266, PMID:25741868, PMID:26386126, PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism
CTD PMID:16469290, PMID:11295830 RGD:1599771 NCBI chr 7:124,024,003...124,041,564
Ensembl chr 7:124,023,995...124,041,594
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:20562208 RGD:10755319 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
Methemoglobinemia Type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
ClinVar Annotator: match by OMIM:250790
OMIM
ClinVar
PMID:3951505, PMID:8262522, PMID:20080843, PMID:22170710, PMID:25741868 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO OMIM NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type
ClinVar Annotator: match by term: HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE
ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE
ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
OMIM
ClinVar
PMID:88735, PMID:604314, PMID:933112, PMID:1163074, PMID:1278400, PMID:1390250, PMID:1398295, PMID:1427786, PMID:1463768, PMID:1483699, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1769663, PMID:1917531, PMID:1967205, PMID:2004023, PMID:2200760, PMID:2298457, PMID:2446680, PMID:2577233, PMID:2713503, PMID:2867271, PMID:2898955, PMID:2903765, PMID:3377987, PMID:3422218, PMID:3462712, PMID:3838975, PMID:4311041, PMID:4413625, PMID:5285571, PMID:5669922, PMID:5851873, PMID:5856115, PMID:5900783, PMID:5996551, PMID:6162860, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6248489, PMID:6264391, PMID:6264477, PMID:6270663, PMID:6280057, PMID:6304979, PMID:6309649, PMID:6311728, PMID:6457059, PMID:6583702, PMID:6585831, PMID:6714226, PMID:6896219, PMID:7151176, PMID:7312624, PMID:7522523, PMID:7558878, PMID:7663000, PMID:7668219, PMID:7713749, PMID:8095930, PMID:8226097, PMID:8330981, PMID:8373896, PMID:8602996, PMID:8619407, PMID:8917506, PMID:9048934, PMID:9101288, PMID:9140720, PMID:9401495, PMID:9490703, PMID:9494043, PMID:10335989, PMID:10612821, PMID:11559932, PMID:11857746, PMID:11939510, PMID:12144057, PMID:12764548, PMID:13509426, PMID:13634986, PMID:13665153, PMID:13897827, PMID:13911805, PMID:14343445, PMID:14452533, PMID:14576320, PMID:15108284, PMID:15654898, PMID:15929117, PMID:16291734, PMID:16311287, PMID:16470532, PMID:17331080, PMID:17365006, PMID:18105244, PMID:18294253, PMID:18603555, PMID:19000664, PMID:19254853, PMID:19727720, PMID:20132300, PMID:20301599, PMID:20324533, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20704537, PMID:21119755, PMID:21228398, PMID:21389146, PMID:21417574, PMID:21797703, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:24033266, PMID:24857915, PMID:25087612, PMID:25089872, PMID:25155404, PMID:25332589, PMID:25525159, PMID:25572186, PMID:25741868, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26097845, PMID:26193974, PMID:26467025, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27821015, PMID:28366028, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar
OMIM
PMID:21681106, PMID:27811305, PMID:28089922, PMID:29174631 NCBI chr  X:114,129,829...114,233,013
Ensembl chr  X:114,131,898...114,232,939
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:114,367,028...114,379,646
Ensembl chr  X:114,373,907...114,378,622
JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106, PMID:27811305, PMID:28089922 NCBI chr  X:113,947,355...114,110,064
Ensembl chr  X:113,948,654...114,110,062
JBrowse link
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Methemoglobinemia, type I
ClinVar Annotator: match by term: METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary methemoglobinemia
DNA:mutations:exons,3'UTR:
ClinVar Annotator: match by synonym: METHEMOGLOBINEMIA, TYPE II
OMIM
ClinVar
PMID:1400360, PMID:1707593, PMID:1898726, PMID:2107882, PMID:4063522, PMID:7668255, PMID:7718898, PMID:8119939, PMID:8427971, PMID:9266404, PMID:9695975, PMID:10807796, PMID:10874300, PMID:11159544, PMID:11295830, PMID:12393396, PMID:12756024, PMID:15921385, PMID:15953014, PMID:16310381, PMID:16748235, PMID:18318771, PMID:21349748, PMID:24033266, PMID:25741868, PMID:21349748 RGD:11040533 NCBI chr 7:124,024,003...124,041,564
Ensembl chr 7:124,023,995...124,041,594
JBrowse link
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
ClinVar Annotator: match by term: Disorder of glycolysis
ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency
ClinVar Annotator: match by OMIM:613470
OMIM
ClinVar
PMID:4076245, PMID:8499925, PMID:8822954, PMID:9856489, PMID:24033266, PMID:32581362 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by OMIM:235700 OMIM
ClinVar
PMID:6848140, PMID:7655856, PMID:12393545 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: HE, STOMATOCYTIC
ClinVar Annotator: match by term: Ovalocytosis, southeast Asian
DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
OMIM
ClinVar
PMID:1378323, PMID:1737855, PMID:2146504, PMID:7689982, PMID:7919393, PMID:7949112, PMID:8434259, PMID:9312167, PMID:10403343, PMID:14618420, PMID:19229254, PMID:25741868, PMID:1722314 RGD:10450479 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Stomatocytosis I OMIM
ClinVar
PMID:1174702, PMID:2765409, PMID:2917122, PMID:13762977, PMID:15180870, PMID:18931342, PMID:21849667, PMID:22012326, PMID:23406318 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar
PMID:24521109 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD Direct Evidence: marker/mechanism
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by OMIM:300818
OMIM
ClinVar
CTD
PMID:8167330, PMID:8500164, PMID:8541558, PMID:8557259, PMID:9019395, PMID:9233558, PMID:9787183, PMID:10220445, PMID:15720958, PMID:16767100, PMID:25741868, PMID:28492532, PMID:12424196 RGD:11087560 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD
ClinVar
PMID:25417052, PMID:25741868 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
ClinVar Annotator: match by OMIM:615399
OMIM
ClinVar
PMID:23733340 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
ClinVar Annotator: match by OMIM:266200
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout
OMIM
ClinVar
PMID:1536957, PMID:1670447, PMID:1896471, PMID:1937486, PMID:2018831, PMID:7655861, PMID:7702630, PMID:7706479, PMID:7919353, PMID:7948315, PMID:8161798, PMID:8483951, PMID:9057665, PMID:9389718, PMID:9657767, PMID:9827908, PMID:9886305, PMID:10828047, PMID:11054094, PMID:11328279, PMID:11698298, PMID:11960989, PMID:12393511, PMID:14014643, PMID:14255553, PMID:15491302, PMID:15953013, PMID:16704447, PMID:17574881, PMID:18172691, PMID:18420493, PMID:18759866, PMID:19085939, PMID:19758413, PMID:21815188, PMID:21833022, PMID:23082140, PMID:24033266, PMID:25741868, PMID:26658699, PMID:26728349, PMID:26832193, PMID:27346685, PMID:27871768, PMID:28133914, PMID:28492532, PMID:7579416, PMID:16704447, PMID:19755962 RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
Rh deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Rh-null hemolytic anemia, regulator type
ClinVar Annotator: match by term: Rh-null, regulator type
OMIM
ClinVar
PMID:8563755, PMID:9442063, PMID:9454778, PMID:9746795, PMID:9915949, PMID:10467273, PMID:25741868 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
G Rhd Rh blood group, D antigen ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:153,197,416...153,232,009
Ensembl chr 5:153,197,459...153,232,687
JBrowse link
G Rsrp1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:153,260,930...153,264,669
Ensembl chr 5:153,260,930...153,264,669
JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698, PMID:22360576, PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7554454, PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cd36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255, PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069, PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:26286849, PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064, PMID:20846340, PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU
ClinVar Annotator: match by term: Sickle cell disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN)
ClinVar Annotator: match by OMIM:603903
ClinVar
CTD
OMIM
PMID:14973, PMID:49057, PMID:81926, PMID:88735, PMID:429843, PMID:700140, PMID:721614, PMID:750553, PMID:893136, PMID:909565, PMID:932531, PMID:974261, PMID:1112610, PMID:1148394, PMID:1177278, PMID:1244906, PMID:1301203, PMID:1353069, PMID:1376298, PMID:1390250, PMID:1427786, PMID:1428944, PMID:1428947, PMID:1463768, PMID:1483699, PMID:1517108, PMID:1517111, PMID:1581247, PMID:1586746, PMID:1610915, PMID:1634236, PMID:1634366, PMID:1634368, PMID:1680789, PMID:1732017, PMID:1734721, PMID:1740317, PMID:1769663, PMID:1787101, PMID:1802884, PMID:1850955, PMID:1873227, PMID:1917531, PMID:1960615, PMID:1967205, PMID:1971109, PMID:1986365, PMID:1986379, PMID:2004023, PMID:2005117, PMID:2014803, PMID:2018842, PMID:2079437, PMID:2123063, PMID:2197725, PMID:2200760, PMID:2200762, PMID:2207008, PMID:2239966, PMID:2291577, PMID:2296310, PMID:2298457, PMID:2298920, PMID:2306523, PMID:2307460, PMID:2393712, PMID:2412200, PMID:2430648, PMID:2434529, PMID:2446680, PMID:2458145, PMID:2467892, PMID:2539344, PMID:2563949, PMID:2577233, PMID:2579336, PMID:2582106, PMID:2606727, PMID:2634667, PMID:2703363, PMID:2713503, PMID:2753736, PMID:2822177, PMID:2867271, PMID:2875755, PMID:2887538, PMID:2888754, PMID:2891298, PMID:2893541, PMID:2895770, PMID:2898142, PMID:2898460, PMID:2898955, PMID:2903765, PMID:2915972, PMID:2930724, PMID:2987224, PMID:2987809, PMID:3014870, PMID:3031297, PMID:3048433, PMID:3114175, PMID:3170235, PMID:3354556, PMID:3403716, PMID:3417300, PMID:3422218, PMID:3462712, PMID:3557993, PMID:3557994, PMID:3557998, PMID:3623977, PMID:3683554, PMID:3690667, PMID:3752087, PMID:3821796, PMID:3828533, PMID:3840039, PMID:3859465, PMID:3942130, PMID:3955238, PMID:3957690, PMID:4018033, PMID:4078867, PMID:4129558, PMID:4232783, PMID:4351905, PMID:4361439, PMID:4715135, PMID:4725603, PMID:4991321, PMID:5050915, PMID:5481775, PMID:5609824, PMID:5619995, PMID:5658717, PMID:5672850, PMID:5722880, PMID:5863839, PMID:5915974, PMID:6016610, PMID:6019668, PMID:6162860, PMID:6166632, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6198908, PMID:6246994, PMID:6264391, PMID:6264477, PMID:6268660, PMID:6270663, PMID:6272289, PMID:6275383, PMID:6280057, PMID:6285354, PMID:6292840, PMID:6304979, PMID:6308558, PMID:6310991, PMID:6316272, PMID:6322284, PMID:6434492, PMID:6457059, PMID:6469698, PMID:6500990, PMID:6572978, PMID:6583683, PMID:6583702, PMID:6584911, PMID:6585381, PMID:6585831, PMID:6664996, PMID:6668188, PMID:6671904, PMID:6695908, PMID:6714226, PMID:6733281, PMID:6826539, PMID:6852251, PMID:6859036, PMID:6896219, PMID:6985481, PMID:7073867, PMID:7076659, PMID:7104238, PMID:7137165, PMID:7151176, PMID:7173395, PMID:7177196, PMID:7229029, PMID:7312624, PMID:7338475, PMID:7395858, PMID:7522523, PMID:7558878, PMID:7668219, PMID:7668221, PMID:7691242, PMID:7795641, PMID:7852087, PMID:7908281, PMID:7993409, PMID:8091935, PMID:8095930, PMID:8161774, PMID:8195010, PMID:8199027, PMID:8199597, PMID:8201467, PMID:8262525, PMID:8330981, PMID:8373896, PMID:8435318, PMID:8462981, PMID:8494004, PMID:8602996, PMID:8619407, PMID:8718703, PMID:8839873, PMID:8917506, PMID:8978308, PMID:9048934, PMID:9101288, PMID:9113933, PMID:9140720, PMID:9160698, PMID:9163586, PMID:9223924, PMID:9225979, PMID:9340427, PMID:9342003, PMID:9401495, PMID:9450794, PMID:9490703, PMID:9495372, PMID:9556665, PMID:9653159, PMID:9834244, PMID:9845707, PMID:9859938, PMID:9875660, PMID:9949622, PMID:10203101, PMID:10335989, PMID:10367791, PMID:10520021, PMID:10583251, PMID:10602954, PMID:10612821, PMID:11001883, PMID:11179419, PMID:11196276, PMID:11300348, PMID:11425418, PMID:11545326, PMID:11559932, PMID:11713529, PMID:11734002, PMID:11741197, PMID:11791878, PMID:11830454, PMID:11857746, PMID:11880644, PMID:11939510, PMID:12000828, PMID:12124399, PMID:12144056, PMID:12144057, PMID:12149194, PMID:12172041, PMID:12210807, PMID:12383672, PMID:12403491, PMID:12488606, PMID:12709369, PMID:12764548, PMID:12850492, PMID:12955718, PMID:13066514, PMID:13108995, PMID:13115700, PMID:13369537, PMID:13464827, PMID:13590135, PMID:13618691, PMID:13685866, PMID:13716853, PMID:13852872, PMID:13872094, PMID:14160125, PMID:14197371, PMID:14282052, PMID:14370233, PMID:14405428, PMID:14492555, PMID:14576320, PMID:14613965, PMID:14715623, PMID:14734204, PMID:14808148, PMID:15000665, PMID:15108284, PMID:15114532, PMID:15181845, PMID:15257926, PMID:15278762, PMID:15333505, PMID:15470211, PMID:15481886, PMID:15543018, PMID:15654898, PMID:15658184, PMID:15697092, PMID:15761692, PMID:15768552, PMID:15973412, PMID:16001361, PMID:16044458, PMID:16103715, PMID:16114182, PMID:16175509, PMID:16291734, PMID:16311287, PMID:16370487, PMID:16370495, PMID:16470532, PMID:16540414, PMID:16540415, PMID:16750922, PMID:16821247, PMID:17008283, PMID:17278112, PMID:17287491, PMID:17331080, PMID:17365006, PMID:17486493, PMID:17486505, PMID:17565724, PMID:17655700, PMID:17655708, PMID:17774955, PMID:17932132, PMID:17949282, PMID:17994378, PMID:18024613, PMID:18048408, PMID:18056002, PMID:18081706, PMID:18192399, PMID:18266208, PMID:18294253, PMID:18495504, PMID:18568278, PMID:18603555, PMID:18976160, PMID:19000664, PMID:19061217, PMID:19254853, PMID:19429541, PMID:19440680, PMID:19460936, PMID:19631632, PMID:19657842, PMID:19727720, PMID:19758965, PMID:19783722, PMID:19841268, PMID:19843386, PMID:19958184, PMID:19958185, PMID:19958198, PMID:19960060, PMID:20035706, PMID:20090224, PMID:20110664, PMID:20132300, PMID:20233970, PMID:20301551, PMID:20301599, PMID:20305663, PMID:20309827, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20492708, PMID:20524821, PMID:20642331, PMID:20704537, PMID:20737602, PMID:20788973, PMID:20838957, PMID:20861612, PMID:20954261, PMID:21119755, PMID:21131035, PMID:21194265, PMID:21228398, PMID:21250876, PMID:21302591, PMID:21389146, PMID:21417574, PMID:21423179, PMID:21509314, PMID:21529713, PMID:21599435, PMID:21732929, PMID:21733559, PMID:21797702, PMID:21797703, PMID:21931510, PMID:22010933, PMID:22028795, PMID:22075726, PMID:22110956, PMID:22145566, PMID:22188014, PMID:22200002, PMID:22244832, PMID:22260787, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22563936, PMID:22625666, PMID:22690826, PMID:22851993, PMID:22975760, PMID:22995479, PMID:23162295, PMID:23234478, PMID:23297836, PMID:23321370, PMID:23348723, PMID:23383304, PMID:23425204, PMID:23457306, PMID:23543793, PMID:23590658, PMID:23637309, PMID:23647352, PMID:23651435, PMID:23729725, PMID:24033266, PMID:24052702, PMID:24055728, PMID:24080465, PMID:24086942, PMID:24099628, PMID:24200214, PMID:24245819, PMID:24265529, PMID:24368026, PMID:24369358, PMID:24401016, PMID:24493127, PMID:24581976, PMID:24616059, PMID:24616209, PMID:24652967, PMID:24814631, PMID:24857915, PMID:24880717, PMID:24957539, PMID:25000193, PMID:25016698, PMID:25023084, PMID:25023085, PMID:25023086, PMID:25087612, PMID:25089872, PMID:25113778, PMID:25135424, PMID:25155404, PMID:25244406, PMID:25332589, PMID:25332633, PMID:25370867, PMID:25408857, PMID:25480500, PMID:25525159, PMID:25525381, PMID:25572186, PMID:25617386, PMID:25666204, PMID:25677748, PMID:25741868, PMID:25754248, PMID:25818823, PMID:25849334, PMID:25856402, PMID:25976460, PMID:26029792, PMID:26041423, PMID:26044735, PMID:26076395, PMID:26084319, PMID:26097845, PMID:26193974, PMID:26275168, PMID:26290351, PMID:26291967, PMID:26351951, PMID:26372199, PMID:26436569, PMID:26467025, PMID:26544676, PMID:26554253, PMID:26554862, PMID:26635043, PMID:26715484, PMID:26877226, PMID:26901597, PMID:26956563, PMID:27117572, PMID:27251090, PMID:27263053, PMID:27427187, PMID:27521862, PMID:27690257, PMID:27821015, PMID:27828729, PMID:27829298, PMID:28356267, PMID:28366028, PMID:28379995, PMID:28385923, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:28865746, PMID:29157184, PMID:29255069, PMID:29484903, PMID:29695942, PMID:30311386, PMID:30604644, PMID:31553106, PMID:31714438, PMID:32581362, PMID:32860008, PMID:6304979 RGD:1600892 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbe1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399, PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 1:169,003,904...169,005,184
Ensembl chr 1:169,003,788...169,005,190
JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO
IMP
RGD PMID:11238038, PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G