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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:congenital hemolytic anemia
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Accession:DOID:589 term browser browse the term
Definition:Hemolytic anemia due to various intrinsic defects of the erythrocyte.
Synonyms:exact_synonym: ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL;   Congenital Hemolytic Anemias;   Hereditary Hemolytic Anemia;   Hereditary Hemolytic Anemias;   congenital hemolytic anaemia;   hereditary hemolytic anaemia
 related_synonym: HEMOGLOBIN CHEVERLY;   HEMOGLOBIN I (TOULOUSE);   HEMOGLOBIN ISTANBUL;   HEMOGLOBIN SAINT ETIENNE;   HEMOGLOBIN SANTA ANA;   HEMOGLOBIN TOULOUSE;   HEMOGLOBIN WASHTENAW
 primary_id: MESH:D000745;   RDO:0000333
 xref: GARD:6167;   ICD10CM:D58.9;   ICD9CM:282;   NCI:C34379
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr17:84,676,302...84,700,333
Ensembl chr17:84,676,302...84,700,333
JBrowse link
G C3 complement component 3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 1:195,038,971...195,098,784
Ensembl chr 1:195,036,826...195,092,249
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO Severe GPI deficiency with neurologic deficits RGD PMID:9856489, PMID:8499925 RGD:1600632, RGD:1600631 NCBI chr 7:34,201,327...34,230,336
Ensembl chr 7:34,201,330...34,230,336
JBrowse link
G Gsr glutathione reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar PMID:3839771, PMID:5713642, PMID:6877904, PMID:7852083, PMID:26467025
G Hbb-b2 hemoglobin, beta adult minor chain ISO congenital Heinz body anemia RGD PMID:2599881, PMID:1520632 RGD:1600889, RGD:1600886
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:122,481,698...122,551,329
Ensembl chr 8:122,481,698...122,551,329
JBrowse link
G Plekhg3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr12:76,533,303...76,580,489
Ensembl chr12:76,530,891...76,580,488
JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 4:134,864,536...134,896,172
Ensembl chr 4:134,864,536...134,896,172
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO
IMP
DNA:missense mutations:cds:multiple (human) RGD PMID:16227998, PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868, PMID:26002053 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
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 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
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 chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell 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 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
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 chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpha-re alpha-globin locus regulatory region ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:3191033, PMID:10602170, PMID:11017952, PMID:24025420 NCBI chr11:32,231,303...32,270,102 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN KOYA DORA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-thalassemia, Hmong type
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)
ClinVar Annotator: match by term: Hemoglobin Quong Sze
ClinVar Annotator: match by OMIM:604131
ClinVar
CTD
OMIM
PMID:478977, PMID:538560, PMID:974034, PMID:1155453, PMID:1553958, PMID:1634361, PMID:1726096, PMID:2197725, PMID:2265255, PMID:2298455, PMID:2318293, PMID:2384313, PMID:2468982, PMID:2544542, PMID:2566576, PMID:2986746, PMID:3177365, PMID:3191033, PMID:3597771, PMID:3620699, PMID:3793931, PMID:4623704, PMID:4724958, PMID:4944483, PMID:5969816, PMID:6158051, PMID:6199285, PMID:6255436, PMID:6490612, PMID:6725554, PMID:6935689, PMID:7070526, PMID:7327587, PMID:7440717, PMID:7639274, PMID:7803274, PMID:7910813, PMID:7969150, PMID:8178806, PMID:8192150, PMID:8460633, PMID:8756078, PMID:8781536, PMID:8829628, PMID:9057661, PMID:9099846, PMID:10602170, PMID:11017952, PMID:11074535, PMID:11570724, PMID:12217813, PMID:12393486, PMID:15182556, PMID:15365991, PMID:15481883, PMID:15481894, PMID:15650030, PMID:16512835, PMID:16798638, PMID:17164653, PMID:17296579, PMID:17486494, PMID:18654893, PMID:19373587, PMID:20154289, PMID:20507641, PMID:21077767, PMID:21599435, PMID:23181747, PMID:23402770, PMID:23590659, PMID:24025420, PMID:24033266, PMID:24300714, PMID:24826792, PMID:24829075, PMID:25523870, PMID:25730315, PMID:25741868, PMID:26114741, PMID:26467025, PMID:26956449, PMID:28492532, PMID:28791910, PMID:29233055, PMID:30864493, PMID:6490612, PMID:14555303, PMID:24829075, PMID:4006915, PMID:9604545, PMID:3680504, PMID:4044827 RGD:1599361, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567, RGD:10449442 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO RGD PMID:4044827 RGD:10449442 NCBI chr11:32,296,492...32,297,310
Ensembl chr11:32,296,489...32,297,298
JBrowse link
G Hba-x hemoglobin X, alpha-like embryonic chain in Hba complex 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 chr11:32,276,600...32,278,116
Ensembl chr11:32,276,400...32,278,116
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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
G Hbq1b hemoglobin, 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 chr11:32,286,964...32,287,912
Ensembl chr11:32,286,965...32,287,784
JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
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 ataxia telangiectasia and Rad3 related ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 9:95,857,597...95,953,217
Ensembl chr 9:95,857,597...95,951,781
JBrowse link
G Atrx ATRX, chromatin remodeler ISO
IEA
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
OMIM:301040
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
MouseDO
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:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Alpha plus thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN
ClinVar PMID:8943885, PMID:12603095, PMID:15481895, PMID:15658192, PMID:20642338, PMID:23614625, PMID:26365411, PMID:26467025 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985
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:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA
ClinVar PMID:1281602, PMID:1581238, PMID:1634361, PMID:2298455, PMID:2372512, PMID:2468982, PMID:3177365, PMID:3620699, PMID:4422784, PMID:4623704, PMID:4944483, PMID:6725554, PMID:7327587, PMID:7701914, PMID:7734346, PMID:7969150, PMID:8193381, PMID:8555062, PMID:8602995, PMID:9057661, PMID:9322079, PMID:9629496, PMID:10722113, PMID:11410420, PMID:11570724, PMID:12393486, PMID:15921163, PMID:16116675, PMID:17164653, PMID:20507641, PMID:21077766, PMID:21077767, PMID:21637442, PMID:23368878, PMID:23901141, PMID:24829075, PMID:25523870, PMID:25741868, PMID:26467025, PMID:26956449, PMID:27271331, PMID:28492532 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
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 ISO OMIM NCBI chr  X:141,165,403...141,474,095
Ensembl chr  X:141,165,403...141,474,076
JBrowse link
autosomal dominant beta 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: 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
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 IEP mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 7:45,974,110...46,030,491
Ensembl chr 7:45,967,555...46,030,302
JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) 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 chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr17:25,374,285...25,436,334
Ensembl chr17:25,374,285...25,433,783
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:7,959,260...7,976,663
Ensembl chr  X:7,959,260...7,978,071
JBrowse link
G Gh growth hormone treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Gsr glutathione reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:12513847 RGD:11041746 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16755567, PMID:17299088, PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292142 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
G Hbb-ar hemoglobin, activating region IEA
ISO
OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO
OMIM
NCBI chr 7:103,852,766...103,877,545 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain treatment ISO
EXP
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
OMIM
ClinVar
CTD
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:24065537, 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:27718361, 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:31240559, PMID:31395865, PMID:31714438, PMID:32581362, PMID:32860008, PMID:16631345 RGD:11353868
G Hbb-b2 hemoglobin, beta adult minor chain ISO
EXP
beta zero thalassemia
CTD Direct Evidence: marker/mechanism
beta-plus-thalassemia
CTD PMID:17018382, PMID:6457059, PMID:6280057 RGD:1600893, RGD:1600895
G Hbs1l Hbs1-like (S. cerevisiae) ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr10:21,295,979...21,368,889
Ensembl chr10:21,295,979...21,368,898
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 chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) IEA OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 2:32,384,637...32,387,739
Ensembl chr 2:32,384,633...32,388,252
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tfr2 transferrin receptor 2 IEP
ISO
mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr 5:137,569,822...137,588,081
Ensembl chr 5:137,569,840...137,587,481
JBrowse link
G Tfrc transferrin receptor IEP
ISO
mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr16:32,608,896...32,632,794
Ensembl chr16:32,608,920...32,632,794
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
JBrowse link
beta-thalassemia intermedia 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: Beta thalassemia intermedia
ClinVar Annotator: match by term: Thalassemia intermedia
ClinVar PMID:291719, PMID:1301199, PMID:1463768, PMID:1586746, PMID:1634236, PMID:1917531, PMID:1954392, PMID:2200760, PMID:2310691, PMID:2375912, PMID:2399911, 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:7530406, PMID:7599641, PMID:7655036, PMID:7794779, PMID:8037185, PMID:8111050, PMID:8438884, PMID:8477263, PMID:8874232, PMID:8980256, PMID:9028819, PMID:9101288, PMID:9140720, PMID:10870887, PMID:11300352, PMID:11532628, PMID:11809258, PMID:11857738, PMID:11857746, PMID:12144056, PMID:12324499, PMID:12709369, PMID:14555318, PMID:15658193, PMID:17007829, PMID:17145605, PMID:17365006, PMID:17606453, PMID:17994378, 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:23525874, 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:28125089, PMID:28276871, PMID:28385923, PMID:28492532, PMID:29893155, PMID:31240559, PMID:31395865
beta-thalassemia major 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: 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:27718361, 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
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 congenital dyserythropoietic anemia, type I (human) susceptibility ISO ClinVar Annotator: match by OMIM:224120
DNA:mutations
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar
RGD
CTD
PMID:12434312, PMID:16098079 RGD:1600473, RGD:11081155 NCBI chr 2:120,716,154...120,731,517
Ensembl chr 2:120,716,154...120,850,128
JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:115,580,907...115,778,774
Ensembl chr 2:115,581,716...115,778,768
JBrowse link
G Diaph3 diaphanous related formin 3 IEA MouseDO NCBI chr14:86,655,357...87,141,247
Ensembl chr14:86,655,367...87,141,235
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Man2a1 mannosidase 2, alpha 1 IEA OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr17:64,600,688...64,755,110
Ensembl chr17:64,600,736...64,755,110
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 2:144,556,229...144,590,753
Ensembl chr 2:144,556,229...144,590,749
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 congenital dyserythropoietic anemia, type I (human) 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 2:120,716,154...120,731,517
Ensembl chr 2:120,716,154...120,850,128
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 congenital dyserythropoietic anemia, type I (human) ISO OMIM NCBI chr 2:120,716,154...120,731,517
Ensembl chr 2:120,716,154...120,850,128
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 2:115,580,907...115,778,774
Ensembl chr 2:115,581,716...115,778,768
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 2:144,556,229...144,590,753
Ensembl chr 2:144,556,229...144,590,749
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 (erythroid) 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 chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
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 (microsomal) ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647, PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:84,851,338...84,879,871
Ensembl chr18:84,838,704...84,879,871
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 2:32,621,758...32,635,058
Ensembl chr 2:32,621,758...32,635,058
JBrowse link
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) ISS OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 MouseDO NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked 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:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO
ISS
IEA
IMP
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 7:34,201,327...34,230,336
Ensembl chr 7:34,201,330...34,230,336
JBrowse link
G Hk1 hexokinase 1 ISO
IAGP
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 chr10:62,268,855...62,379,920
Ensembl chr10:62,268,855...62,379,908
JBrowse link
G Nt5c3 5'-nucleotidase, cytosolic III ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 6:56,882,400...56,924,008
Ensembl chr 6:56,882,400...56,923,932
JBrowse link
G Pklr pyruvate kinase liver and red blood cell 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 3:89,136,122...89,146,815
Ensembl chr 3:89,136,142...89,146,784
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 6:124,810,586...124,814,158
Ensembl chr 6:124,810,586...124,814,296
JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,369,826...24,385,212
Ensembl chr 7:24,370,263...24,386,690
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Xerocytosis hereditary ClinVar PMID:16898969, PMID:21944700, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868 NCBI chr 8:122,481,698...122,551,329
Ensembl chr 8:122,481,698...122,551,329
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 chr 8:122,481,698...122,551,329
Ensembl chr 8:122,481,698...122,551,329
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 intermediate/small conductance 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 7:24,369,826...24,385,212
Ensembl chr 7:24,370,263...24,386,690
JBrowse link
delta beta-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: 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:6826539, 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:8435318, PMID:8462981, PMID:8602996, PMID:8619407, PMID:8917506, PMID:9048934, PMID:9101288, PMID:9113933, PMID:9140720, PMID:9401495, PMID:9490703, PMID:9845707, 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:12000828, PMID:12124399, PMID:12144056, PMID:12144057, PMID:12383672, 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:15181845, 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:22188014, 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:24200214, PMID:24245819, PMID:24401016, PMID:24493127, PMID:24616059, PMID:24814631, PMID:24857915, PMID:25000193, PMID:25016698, PMID:25023084, PMID:25023085, PMID:25087612, PMID:25089872, PMID:25113778, PMID:25135424, PMID:25155404, PMID:25332589, PMID:25480500, 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:26290351, PMID:26291967, 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:29484903, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008
G Hbb-bh1 hemoglobin Z, beta-like embryonic chain 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 7:103,841,638...103,843,162
Ensembl chr 7:103,841,637...103,843,164
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 4:131,923,413...132,075,346
Ensembl chr 4:131,923,413...132,075,321
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
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 chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
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 2:152,753,916...152,765,039
Ensembl chr 2:152,754,173...152,765,037
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 (MAGUK family) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO
IEA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Favism, susceptibility to
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
MouseDO
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:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Ikbkg inhibitor of kappaB kinase 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:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked 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:74,409,483...74,428,880
Ensembl chr  X:74,409,483...74,429,194
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Ikbkg inhibitor of kappaB kinase 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:74,393,233...74,456,792
Ensembl chr  X:74,393,290...74,453,854
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 chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
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 chr 1:181,815,315...181,842,401
Ensembl chr 1:181,815,335...181,843,046
JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Heinz body anemias OMIM
ClinVar
PMID:5639009, PMID:7558871, PMID:25741868 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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
hemoglobin C disease 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: 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
G Hbb-b2 hemoglobin, beta adult minor chain ISO RGD PMID:2239966 RGD:1600890
hemoglobin D disease 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: 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
hemoglobin E disease 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: 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
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:1281602, PMID:1581238, PMID:1634361, PMID:2298455, PMID:2372512, PMID:2468982, PMID:3177365, PMID:3620699, PMID:4422784, PMID:4623704, PMID:4944483, PMID:6725554, PMID:7327587, PMID:7701914, PMID:7734346, PMID:7969150, PMID:8193381, PMID:8555062, PMID:8602995, PMID:9057661, PMID:9322079, PMID:9629496, PMID:10722113, PMID:11410420, PMID:11570724, PMID:12393486, PMID:16116675, PMID:17164653, PMID:20507641, PMID:21077767, PMID:21637442, PMID:23901141, PMID:24829075, PMID:25523870, PMID:25741868, PMID:26467025, PMID:26956449, PMID:27271331, PMID:28492532 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
Hemoglobin M Disease 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: 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
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by synonym: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK
ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE
ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY
ClinVar Annotator: match by term: HEMOGLOBIN ICARIA
ClinVar Annotator: match by term: HEMOGLOBIN SINAI
ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO
ClinVar Annotator: match by term: Abnormal hemoglobin
ClinVar Annotator: match by term: Hemoglobin Val de Marne
ClinVar PMID:486536, PMID:620088, PMID:1115799, PMID:1517104, PMID:2079430, PMID:2079431, PMID:2298455, PMID:2372512, PMID:2752146, PMID:3384700, PMID:4422784, PMID:4944483, PMID:5587575, PMID:5713624, PMID:5780195, PMID:5794113, PMID:6725554, PMID:7096113, PMID:7110343, PMID:7295286, PMID:7803274, PMID:8195006, PMID:8294199, PMID:8555062, PMID:8602995, PMID:8811313, PMID:9057661, PMID:9255612, PMID:9629496, PMID:10722113, PMID:11570724, PMID:12393486, PMID:12603094, PMID:13748254, PMID:13968068, PMID:15481888, PMID:15813858, PMID:18691171, PMID:20507641, PMID:21637442, PMID:26365411, PMID:26467025, PMID:26523940, PMID:26635043, PMID:28492532 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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
RGD
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:24930900, 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:31240559, PMID:31714438 RGD:10449038
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
IEA
ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar
MouseDO
PMID:17994571 RGD:11252097 NCBI chr 4:131,923,413...132,075,346
Ensembl chr 4:131,923,413...132,075,321
JBrowse link
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 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 chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IAGP
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 chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
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 chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1, erythroid severity ISO
IAGP
IMP
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 chr 8:22,974,836...23,150,501
Ensembl chr 8:22,974,844...23,150,497
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
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 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) IAGP
IEA
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 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 chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IAGP
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 chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
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 (beta) IEA OMIM:182900 MouseDO NCBI chr 6:86,028,681...86,124,409
Ensembl chr 6:86,028,681...86,124,409
JBrowse link
G Ank1 ankyrin 1, erythroid ISO
IEA
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
OMIM:182900
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
MouseDO
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 chr 8:22,974,836...23,150,501
Ensembl chr 8:22,974,844...23,150,497
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 IEA OMIM:182900 MouseDO NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IEA OMIM:182900 MouseDO NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IEA
ClinVar Annotator: match by term: Spherocytosis type 3
OMIM:270970
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
MouseDO
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 chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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 (anion exchanger), member 1 ISO
IEA
ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
MouseDO
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 chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
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 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:161,942,089...161,982,371
Ensembl chr 1:161,942,086...161,979,636
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:66,056,855...66,291,838
Ensembl chr18:66,045,302...66,302,741
JBrowse link
G Chrna1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:73,563,281...73,580,338
Ensembl chr 2:73,563,215...73,580,338
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:164,832,872...164,841,032
Ensembl chr 2:164,832,873...164,841,032
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 7:143,823,167...143,848,410
Ensembl chr 7:143,823,145...143,848,410
JBrowse link
G Dnah14 dynein, axonemal, heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:181,576,593...181,814,932
Ensembl chr 1:181,576,559...181,815,774
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr15:39,006,149...39,038,192
Ensembl chr15:39,006,034...39,038,188
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:73,493,207...73,712,138
Ensembl chr17:73,493,228...73,710,453
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 chr 5:129,989,011...130,003,049
Ensembl chr 5:129,989,011...130,003,049
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME ClinVar PMID:9029003, PMID:11722414 NCBI chr11:32,283,672...32,284,486
Ensembl chr11:32,283,511...32,284,465
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868, PMID:28492532 NCBI chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:7881431, PMID:9300653, PMID:25741868, PMID:31680349 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr11:77,763,240...77,865,988
Ensembl chr11:77,763,246...77,865,980
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949, PMID:28492532 NCBI chr17:71,003,332...71,126,856
Ensembl chr17:71,002,633...71,126,856
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 2:52,136,640...52,338,798
Ensembl chr 2:52,136,647...52,378,474
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr17:34,931,253...34,937,297
Ensembl chr17:34,931,253...34,935,953
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868, PMID:30244526, PMID:31680349 NCBI chr 8:122,481,698...122,551,329
Ensembl chr 8:122,481,698...122,551,329
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:161,969,188...161,973,460
Ensembl chr 1:161,969,186...161,973,435
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase 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 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659, PMID:25741868, PMID:31680349 NCBI chr 2:91,035,472...91,045,729
Ensembl chr 2:91,035,620...91,045,729
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962, PMID:18414213, PMID:20080402, PMID:20583297, PMID:21911697, PMID:22473935, PMID:23553787, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24195946, PMID:24951453, PMID:25476234, PMID:25741868, PMID:26633545, PMID:28492532, PMID:31680349 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Sftpa1 surfactant associated protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:41,131,788...41,136,373
Ensembl chr14:41,131,782...41,136,452
JBrowse link
G Slc26a3 solute carrier family 26, member 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:9718329, PMID:21394828, PMID:25741868, PMID:31680349 NCBI chr12:31,433,142...31,473,922
Ensembl chr12:31,390,871...31,473,917
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 8:22,220,938...22,262,957
Ensembl chr 8:22,227,313...22,261,334
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 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:5,050,057...5,086,289
Ensembl chr16:5,050,057...5,086,289
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, 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 9:123,366,927...123,462,675
Ensembl chr 9:123,366,927...123,462,666
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 B cell CLL/lymphoma 11A (zinc finger protein) 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, PMID:31474318 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
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 chr 5:137,350,109...137,374,522
Ensembl chr 5:137,350,109...137,378,669
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 ISO OMIM NCBI chr 2:84,330,626...84,425,405
Ensembl chr 2:84,330,626...84,425,411
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 chr17:71,183,532...71,249,818
Ensembl chr17:71,182,560...71,249,817
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 (microsomal) ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:84,851,338...84,879,871
Ensembl chr18:84,838,704...84,879,871
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 chr15:83,153,495...83,176,440
Ensembl chr15:83,153,494...83,172,592
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 9:57,676,937...57,683,655
Ensembl chr 9:57,676,937...57,683,703
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility IMP RGD PMID:20562208 RGD:10755319 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117
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 (microsomal) 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 chr18:84,851,338...84,879,871
Ensembl chr18:84,838,704...84,879,871
JBrowse link
Methemoglobinemia, Beta-Globin Type 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: 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
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 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 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:142,851,146...142,966,726
Ensembl chr  X:142,851,146...142,966,728
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:143,058,276...143,105,330
Ensembl chr  X:143,099,594...143,104,297
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:142,680,347...142,843,494
Ensembl chr  X:142,681,406...142,843,494
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 chr15:83,153,495...83,176,440
Ensembl chr15:83,153,494...83,172,592
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 Gpi1 glucose-6-phosphate isomerase 1 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 7:34,201,327...34,230,336
Ensembl chr 7:34,201,330...34,230,336
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 (anion exchanger), member 1 ISO DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
ClinVar Annotator: match by term: Ovalocytosis, southeast Asian
ClinVar Annotator: match by term: HE, STOMATOCYTIC
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 chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rhesus blood group-associated A 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 chr17:40,811,099...40,844,094
Ensembl chr17:40,811,126...40,840,754
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 K+ 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 3:89,146,775...89,160,284
Ensembl chr 3:89,146,074...89,160,196
JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO
IEA
IAGP
IMP
ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
OMIM:266200
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
MouseDO
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 3:89,136,122...89,146,815
Ensembl chr 3:89,136,142...89,146,784
JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate, delta-, dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 4:62,505,984...62,520,063
Ensembl chr 4:62,509,169...62,519,918
JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr12:7,977,629...8,016,839
Ensembl chr12:7,977,648...8,016,835
JBrowse link
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) severity
treatment
ISO
IMP
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698, PMID:22360576, PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr11:24,076,564...24,173,558
Ensembl chr11:24,078,056...24,174,123
JBrowse link
G C3 complement component 3 severity ISO protein:increased processing RGD PMID:7554454, PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Cd36 CD36 molecule treatment ISO
IMP
protein:increased expression:erythrocyte RGD PMID:18322255, PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069, PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr17:34,856,374...34,862,514
Ensembl chr17:34,856,374...34,862,518
JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr19:39,389,556...39,463,103
Ensembl chr19:39,389,556...39,463,075
JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr19:39,113,898...39,186,756
Ensembl chr19:39,113,898...39,187,072
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
JBrowse link
G F2 coagulation factor II disease_progression IMP
ISO
protein:increased expression:plasma: RGD PMID:26286849, PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G F3 coagulation factor III ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO
IEP
protein:decreased expression:penis RGD PMID:19951064, PMID:20846340, PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 9:108,339,080...108,340,342
Ensembl chr 9:108,338,903...108,340,343
JBrowse link
G Gsr glutathione reductase IEP protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr 8:33,653,238...33,698,162
Ensembl chr 8:33,652,523...33,698,163
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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
OMIM
ClinVar
CTD
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:15727901, 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: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:26594346, PMID:26635043, PMID:26715484, PMID:26877226, PMID:26901597, PMID:26956563, PMID:27117572, PMID:27251090, PMID:27263053, PMID:27427187, PMID:27521862, PMID:27670359, PMID:27690257, PMID:27718361, 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
G Hbb-b2 hemoglobin, beta adult minor chain ISO RGD PMID:6304979 RGD:1600892
G Hbb-y hemoglobin Y, beta-like embryonic chain treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399, PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 7:103,851,754...103,853,207
Ensembl chr 7:103,851,749...103,853,216
JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr10:62,268,855...62,379,920
Ensembl chr10:62,268,855...62,379,908
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:44,336,348...44,344,228
Ensembl chr 9:44,336,339...44,344,228
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP
ISO
RGD PMID:11238038, PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24281564 RGD:11046271 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il5 interleukin 5 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 IEP RGD PMID:21085184 RGD:10412315 NCBI chr10:117,688,875...117,710,758
Ensembl chr10:117,688,875...117,710,758
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:22924497, PMID:20113291, PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Nppb natriuretic peptide type B severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:20408845, PMID:21689089 RGD:5685653 NCBI chr 4:147,985,786...147,987,205
Ensembl chr 4:147,985,788...147,987,205
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr12:85,166,637...85,177,785
Ensembl chr12:85,166,635...85,177,790
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Selp selectin, platelet IMP RGD PMID:21071696 RGD:6219007 NCBI chr 1:164,115,264...164,150,026
Ensembl chr 1:164,115,264...164,150,026
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IEA OMIM:603903 MouseDO NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD PMID:14965870, PMID:8140855 RGD:10449460 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 3:116,110,020...116,129,688
Ensembl chr 3:116,109,949...116,129,688
JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
Sickle Cell Trait 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: HEMOGLOBIN D (IBADAN) ClinVar PMID:12144055, PMID:14311973, PMID:19429541, PMID:26467025, PMID:26635043, PMID:27207683, PMID:27521855
G Hp haptoglobin ISO RGD PMID:21595649, PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr 8:109,575,128...109,579,172
Ensembl chr 8:109,575,128...109,579,172
JBrowse link
Stomatocytosis II 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: Stomatocytosis II ClinVar PMID:5559828, PMID:9827909, PMID:16898969, PMID:17253968, PMID:21944700, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868, PMID:29576450 NCBI chr 8:122,481,698...122,551,329
Ensembl chr 8:122,481,698...122,551,329
JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 treatment ISO DNA:deletion: : (human) RGD PMID:26691424 RGD:12798507 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobin Lepore trait
ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE)
ClinVar PMID:511585, PMID:700140, PMID:701081, PMID:857849, PMID:1347969, PMID:1693293, PMID:2442092, PMID:4625560, PMID:5125343, PMID:5356627, PMID:5481775, PMID:5660684, PMID:5872025, PMID:5964983, PMID:6026391, PMID:6859036, PMID:8745435, PMID:13703277, PMID:13843994, PMID:13892631, PMID:14092068, PMID:14117783, PMID:14133899, PMID:14282052, PMID:14449876, PMID:14478740, PMID:16114186, PMID:16178917, PMID:17709689, PMID:19429541, PMID:19750260, PMID:20206586, PMID:24200101, PMID:25130136, PMID:25741868, PMID:26467025, PMID:26901597, PMID:27207683, PMID:27535164, PMID:28791912, PMID:30311386
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEA MouseDO NCBI chr 7:45,522,917...45,526,268
Ensembl chr 7:45,522,916...45,526,268
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
triosephosphate isomerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpi1 triosephosphate isomerase 1 ISO
IEA
ClinVar Annotator: match by term: Triosephosphate isomerase deficiency
OMIM:615512
ClinVar Annotator: match by OMIM:615512
OMIM
ClinVar
MouseDO
PMID:2876430, PMID:7485100, PMID:7628118, PMID:8244340, PMID:8503454, PMID:8571957, PMID:9338582, PMID:9842650, PMID:10209987, PMID:10910933, PMID:11196750, PMID:11698297, PMID:17183658, PMID:18562316, PMID:20374271, PMID:24033266, PMID:24056040, PMID:24192681, PMID:24840153, PMID:25741868, PMID:26863999, PMID:27717089, PMID:28492532 NCBI chr 6:124,810,586...124,814,158
Ensembl chr 6:124,810,586...124,814,296
JBrowse link
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5c3 5'-nucleotidase, cytosolic III ISO ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
ClinVar Annotator: match by OMIM:266120
OMIM
ClinVar
PMID:6310729, PMID:11369620, PMID:12714505, PMID:12930399, PMID:15238149 NCBI chr 6:56,882,400...56,924,008
Ensembl chr 6:56,882,400...56,923,932
JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
X-linked congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11c ATPase, class VI, type 11C ISO ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED ClinVar
OMIM
PMID:25741868, PMID:26944472 NCBI chr  X:60,223,283...60,404,853
Ensembl chr  X:60,223,290...60,592,698
JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by OMIM:314050 OMIM
ClinVar
PMID:871527, PMID:2200364, PMID:3521939, PMID:10733494, PMID:12200364, PMID:14691578, PMID:15701726, PMID:17148589, PMID:17209061, PMID:17881640, PMID:19268002, PMID:23704091 NCBI chr  X:7,959,260...7,976,663
Ensembl chr  X:7,959,260...7,978,071
JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: GATA-1-related thrombocytopenia with dyserythropoiesis
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
ClinVar Annotator: match by OMIM:300367
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.M205V, 613G>A (human)
OMIM
ClinVar
PMID:8628290, PMID:10700180, PMID:11418466, PMID:11566888, PMID:11809723, PMID:15895080, PMID:15920471, PMID:16095949, PMID:16103636, PMID:16783379, PMID:17713552, PMID:17763153, PMID:18041654, PMID:22706301, PMID:23278136, PMID:23704091, PMID:24255919, PMID:24453067, PMID:24766296, PMID:24952648, PMID:25741868, PMID:28492532, PMID:31064749, PMID:32581362, PMID:11675338, PMID:11418466, PMID:10700180 RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:7,959,260...7,976,663
Ensembl chr  X:7,959,260...7,978,071
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Developmental Diseases 9433
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8231
        genetic disease 7762
          congenital hemolytic anemia 141
            Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
            Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
            Red Cell Phospholipid Defect with Hemolysis 0
            Rh-Null Disease, Amorph Type 0
            Stomatocytosis II 1
            Transient Erythroblastopenia of Childhood 0
            Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 1
            X-linked congenital hemolytic anemia 1
            congenital dyserythropoietic anemia + 9
            congenital nonspherocytic hemolytic anemia + 13
            dehydrated hereditary stomatocytosis + 2
            glucosephosphate dehydrogenase deficiency + 7
            hemoglobinopathy + 107
            hereditary elliptocytosis + 9
            hereditary spherocytosis + 11
            overhydrated hereditary stomatocytosis 1
            sickle cell anemia + 45
            thalassemia + 75
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      Hemic and Lymphatic Diseases 1998
        hematopoietic system disease 1590
          anemia 421
            normocytic anemia 186
              hemolytic anemia 186
                congenital hemolytic anemia 141
                  Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
                  Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency 1
                  Red Cell Phospholipid Defect with Hemolysis 0
                  Rh-Null Disease, Amorph Type 0
                  Stomatocytosis II 1
                  Transient Erythroblastopenia of Childhood 0
                  Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 1
                  X-linked congenital hemolytic anemia 1
                  congenital dyserythropoietic anemia + 9
                  congenital nonspherocytic hemolytic anemia + 13
                  dehydrated hereditary stomatocytosis + 2
                  glucosephosphate dehydrogenase deficiency + 7
                  hemoglobinopathy + 107
                  hereditary elliptocytosis + 9
                  hereditary spherocytosis + 11
                  overhydrated hereditary stomatocytosis 1
                  sickle cell anemia + 45
                  thalassemia + 75
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.