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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 chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H
Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P)
RGD PMID:8499925, PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans RGD PMID:947404 RGD:1600697 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO DNA,protein:point mutation,increased hydroxylation:CDS,CDS:Leu75Pro and Leu141Hydroxy-Leu
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
RGD
ClinVar
PMID:1520632, PMID:3839771, PMID:5713642, PMID:6877904, PMID:7852083, PMID:26467025 RGD:1600886 NCBI chr21:28,187,535...28,188,991 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:39,112,613...39,155,115
Ensembl chr 8:39,072,389...39,155,173
JBrowse link
G RHCE Rh blood group CcEe antigens ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 2:74,466,902...74,503,451
Ensembl chr 2:74,466,928...74,503,448
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:8841202, PMID:16227998 RGD:10450505, RGD:10450509 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868, PMID:26002053 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr21:28,187,535...28,188,991 JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:
RGD PMID:14687036, PMID:25263931 RGD:11533931, RGD:11533934 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
RGD PMID:22925497, PMID:25130874 RGD:11075233, RGD:11075235 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G HBM hemoglobin subunit mu ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2986746, PMID:3191033, PMID:6158051, PMID:10602170, PMID:11017952, PMID:24025420 NCBI chr 6:40,330,773...40,331,500
Ensembl chr 6:40,330,773...40,332,207
JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO OMIM NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855600 hemoglobin subunit zeta-like 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 chr 6:40,331,717...40,332,764 JBrowse link
G LOC479668 haptoglobin-like ISO RGD PMID:16760505 RGD:11041792 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: A-Thalassemia
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
RGD
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:14555303, 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 RGD:11353869 NCBI chr21:28,187,535...28,188,991 JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016
JBrowse link
G ATRX ATRX chromatin remodeler ISO OMIM NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Alpha-plus-thalassemia ClinVar PMID:11791872 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr21:28,187,535...28,188,991 JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO OMIM NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999, PMID:9029003, PMID:10569720, PMID:19636270, PMID:20147853, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 NCBI chr 6:40,324,378...40,325,427 JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703
JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO OMIM NCBI chr21:28,187,535...28,188,991 JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689
JBrowse link
G APOB apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
RGD PMID:22258351, PMID:23541515, PMID:25574177, PMID:25751242 RGD:11099969, RGD:11100005, RGD:11100008, RGD:11100011 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G CFB complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr12:1,400,143...1,406,267 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G GATA1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16755567, PMID:17299088, PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
JBrowse link
G HBS1L HBS1 like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:27,704,375...27,791,376
Ensembl chr 1:27,695,441...27,791,381
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 RGD:10755489, RGD:10755537 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043, PMID:4646552, PMID:7803274, PMID:21045395, PMID:25354131, PMID:26467025, PMID:27207683, PMID:28526955 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain ISO RGD PMID:12513847 RGD:11041746 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G LOC479668 haptoglobin-like ISO RGD PMID:22885163 RGD:11041795 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LOC609402 hemoglobin subunit beta-like treatment ISO OMIM
RGD
PMID:16631345 RGD:11353868 NCBI chr21:28,187,535...28,188,991 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TFR2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16755567 RGD:11062138 NCBI chr 6:9,059,501...9,076,646
Ensembl chr 6:9,060,629...9,076,158
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD
RGD
PMID:16755567 RGD:11062138 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like 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 NCBI chr21:28,187,535...28,188,991 JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like 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 SHOWA-YAKUSHIJI
ClinVar Annotator: match by term: Hemoglobin E - beta-thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS
ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI
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 NCBI chr21:28,187,535...28,188,991 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
DNA:mutations
DNA:mutations:multiple (human)
CTD
ClinVar
RGD
PMID:12434312, PMID:16098079 RGD:11081155, RGD:1600473 NCBI chr30:9,656,408...9,668,898
Ensembl chr30:9,656,871...9,668,653
JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr30:4,129,366...4,356,771
Ensembl chr30:4,129,082...4,341,136
JBrowse link
G KLF1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
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 chr24:4,663,043...4,700,949
Ensembl chr24:4,663,302...4,727,920
JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:12434312, PMID:12825070, PMID:16098079, PMID:16141353, PMID:16754775, PMID:18575862, PMID:20301759, PMID:22407294, PMID:23065504, PMID:25741868, PMID:25741869, PMID:27827297, PMID:28132690, PMID:28492532, PMID:29901818 NCBI chr30:9,656,408...9,668,898
Ensembl chr30:9,656,871...9,668,653
JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 ISO OMIM NCBI chr30:9,656,408...9,668,898
Ensembl chr30:9,656,871...9,668,653
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 OMIM NCBI chr30:4,129,366...4,356,771
Ensembl chr30:4,129,082...4,341,136
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 OMIM NCBI chr24:4,663,043...4,700,949
Ensembl chr24:4,663,302...4,727,920
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLF1 Kruppel like factor 1 ISO OMIM NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
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 DNA:missense, nonsense mutations:splice junction,cds:multiple
protein:decreased activity:erythrocyte membrane:
RGD PMID:7451647, PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932
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 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)
RGD
CTD
PMID:1999409, PMID:4125296, PMID:10666231, PMID:24923766 RGD:10449107, RGD:1599812 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:mutations:cds:
DNA:point_mutation:CDS:1648A>G amino acid K550E
RGD PMID:8417789, PMID:9446754, PMID:17041899 RGD:11051849, RGD:11051955, RGD:1600633 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
JBrowse link
G HK1 hexokinase 1 ISO DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
RGD PMID:7655856, PMID:11783948 RGD:11353878, RGD:1601519 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211
JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr14:45,076,487...45,132,000
Ensembl chr14:45,077,099...45,131,905
JBrowse link
G PKLR pyruvate kinase L/R ISO DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.A468V, p.I314T (human)
RGD PMID:1536957, PMID:7949104, PMID:8161798, PMID:11054094 RGD:11535979, RGD:11535981, RGD:11535983, RGD:11535987 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
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 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
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 OMIM NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO OMIM NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC485255 hemoglobin subunit epsilon-2 ISO OMIM NCBI chr21:28,193,163...28,194,746 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO OMIM NCBI chr21:28,187,535...28,188,991 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 OMIM NCBI chr 2:71,474,916...71,673,052
Ensembl chr 2:71,474,954...71,584,266
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
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 IEA
ISO
Elliptocytosis OMIA
OMIM
PMID:10590790, PMID:19228356 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
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 OMIM NCBI chr24:21,122,033...21,128,368
Ensembl chr24:21,120,213...21,128,320
JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO OMIM NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
CTD
ClinVar
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:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G IFNG interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar PMID:8471773, PMID:10502785, PMID:11601226, PMID:16329560, PMID:28492532, PMID:29339739, PMID:30315739 NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
JBrowse link
G IL10 interleukin 10 no_association ISO DNA:SNPs:promoter:-1082G>A, -819T>C (human)
DNA:SNP:promoter:-592A>C (human)
RGD PMID:15718915 RGD:11049178 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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 OMIM NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606
JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO OMIM NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO OMIM NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO DNA:point mutation:CDS:69G>A, amino acid E6K
ClinVar Annotator: match by term: HEMOGLOBIN C
RGD
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 RGD:1600890 NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
ClinVar Annotator: match by term: Hemoglobin D disease
ClinVar PMID:750553, PMID:1177278, PMID:1244906, PMID:2079437, PMID:2307460, PMID:2887538, PMID:2895770, PMID:3557993, PMID:3557998, PMID:3838975, PMID:4078867, PMID:4991321, PMID:5050915, PMID:5672850, PMID:6322284, PMID:7338475, PMID:12403491, PMID:12709369, PMID:13590135, PMID:13872094, PMID:14160125, PMID:16370495, PMID:16540414, PMID:19958184, PMID:20110664, PMID:20301551, PMID:20437613, PMID:21194265, PMID:22028795, PMID:24245819, PMID:24616059, PMID:24814631, PMID:25666204, PMID:25741868, PMID:25818823, PMID:26467025, PMID:28492532 NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:700140, PMID:893136, PMID:1960615, PMID:3031297, PMID:4351905, PMID:5658717, PMID:5863839, PMID:6166632, PMID:6198908, PMID:6275383, PMID:6280057, PMID:6859036, PMID:7177196, PMID:7395858, PMID:8839873, PMID:9653159, PMID:11425418, PMID:12149194, PMID:12850492, PMID:13716853, PMID:14734204, PMID:15114532, PMID:15470211, PMID:15481886, PMID:16114182, PMID:16750922, PMID:17278112, PMID:18024613, PMID:18568278, PMID:19440680, PMID:19841268, PMID:20301599, PMID:20492708, PMID:21732929, PMID:22028795, PMID:22260787, PMID:24368026, PMID:24581976, PMID:25370867, PMID:25741868, PMID:26554862, PMID:28492532 NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO OMIM NCBI chr 6:40,324,378...40,325,427 JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074, PMID:4413625, PMID:5851873, PMID:5856115, PMID:5996551, PMID:6248489, PMID:7663000, PMID:7713749, PMID:13509426, PMID:13634986, PMID:13897827, PMID:13911805, PMID:14343445, PMID:14452533, PMID:15929117, PMID:18105244, PMID:19727720, PMID:20324533 NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE
ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO
ClinVar Annotator: match by term: HEMOGLOBIN ADANA
ClinVar PMID:646867, PMID:740406, PMID:943846, PMID:4503919, PMID:4986187, PMID:5452727, PMID:8237999, PMID:9029003, PMID:10569720, PMID:11558897, PMID:12403494, PMID:13500096, PMID:13536534, PMID:13863929, PMID:15481890, PMID:16590776, PMID:19636270, PMID:20147853, PMID:25342395, PMID:26467025, PMID:27173219, PMID:29749692 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC609402 hemoglobin subunit beta-like severity ISO ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN TENDE
ClinVar Annotator: match by term: HEMOGLOBIN SAALE
ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO
ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH)
ClinVar Annotator: match by term: HEMOGLOBIN J (LOME)
ClinVar Annotator: match by term: HEMOGLOBIN TYNE
ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT
ClinVar Annotator: match by term: HEMOGLOBIN HIKARI
ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH
ClinVar Annotator: match by term: HEMOGLOBIN DEACONESS
ClinVar Annotator: match by term: HEMOGLOBIN YUSA
ClinVar Annotator: match by term: HEMOGLOBIN WACO
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8114, PMID:20942, PMID:88735, PMID:598514, PMID:747178, PMID:891976, PMID:893132, PMID:1002699, PMID:1117598, PMID:1244915, PMID:1374896, PMID:1384315, PMID:1428943, PMID:1463768, PMID:1520612, PMID:1536956, PMID:1634360, PMID:1686262, PMID:1705411, PMID:1769663, PMID:1777603, PMID:1787097, PMID:1814858, PMID:1850955, PMID:1856830, PMID:1873227, PMID:1951318, PMID:1954392, PMID:1974422, PMID:1986379, PMID:2014803, PMID:2018842, PMID:2197725, PMID:2283301, PMID:2291577, PMID:2298920, PMID:2375910, PMID:2384310, PMID:2399911, PMID:2458145, PMID:2467892, PMID:2599881, PMID:2703367, PMID:2752127, PMID:2901867, PMID:3006832, PMID:3024968, PMID:3114175, PMID:3391614, PMID:3403716, PMID:3457470, PMID:3557996, PMID:3583764, PMID:3588028, PMID:3756101, PMID:3768534, PMID:3780671, PMID:3942130, PMID:3955238, PMID:4514958, PMID:4942314, PMID:4999133, PMID:5059650, PMID:5079107, PMID:5120550, PMID:5577462, PMID:5684629, PMID:5773089, PMID:5782115, PMID:5791730, PMID:5856115, PMID:5881530, PMID:5919752, PMID:6029950, PMID:6030043, PMID:6038175, PMID:6050213, PMID:6067323, PMID:6086605, PMID:6249934, PMID:6469698, PMID:6526653, PMID:6646217, PMID:6664996, PMID:6668188, PMID:6714226, PMID:6733281, PMID:6874374, PMID:6879181, PMID:7104238, PMID:7158624, PMID:7173395, PMID:7295768, PMID:7353956, PMID:7390864, PMID:7407240, PMID:7437334, PMID:7530406, PMID:7558874, PMID:7558878, PMID:7632967, PMID:7693620, PMID:7852087, PMID:7852088, PMID:7860732, PMID:7864023, PMID:7928379, PMID:8081396, PMID:8112743, PMID:8199027, PMID:8225319, PMID:8226093, PMID:8226094, PMID:8435318, PMID:8619407, PMID:8701949, PMID:8718703, PMID:9028819, PMID:9101280, PMID:9101288, PMID:9140720, PMID:9163586, PMID:9223924, PMID:9340427, PMID:9401495, PMID:9495372, PMID:9625056, PMID:9792288, PMID:9859935, PMID:10081984, PMID:10490144, PMID:10770934, PMID:10815781, PMID:10840054, PMID:11532628, PMID:11722417, PMID:11791873, PMID:11857738, PMID:11857746, PMID:12368169, PMID:12403498, PMID:12709369, PMID:12752111, PMID:12779270, PMID:12779277, PMID:12955718, PMID:13911808, PMID:14197371, PMID:14198723, PMID:14734204, PMID:15008262, PMID:15108284, PMID:15315794, PMID:15481885, PMID:15481896, PMID:15658193, PMID:15761692, PMID:16466947, PMID:16732578, PMID:16987801, PMID:17007829, PMID:17008283, PMID:17606453, PMID:17949282, PMID:17994378, PMID:18096416, PMID:18294253, PMID:18339318, PMID:18432506, PMID:18498386, PMID:18654889, PMID:18954999, PMID:18976160, PMID:19205970, PMID:19254853, PMID:19429541, PMID:19437135, PMID:19460936, PMID:19486366, PMID:20113284, PMID:20132300, PMID:20309827, PMID:20395516, PMID:20437613, PMID:20524821, PMID:20704537, PMID:21119755, PMID:21232998, PMID:21389146, PMID:21423179, PMID:21523319, PMID:21599435, PMID:21797703, PMID:22010933, PMID:22074124, PMID:22180324, PMID:22239493, PMID:22392582, PMID:22675570, PMID:22975760, PMID:23321370, PMID:23383304, PMID:23510507, PMID:23525874, PMID:23590330, PMID:23590658, PMID:24265529, PMID:24450243, PMID:24719849, PMID:24828949, PMID:24880717, PMID: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 NCBI chr21:28,187,535...28,188,991 JBrowse link
hereditary elliptocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB41 erythrocyte membrane protein band 4.1 ISO associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar Annotator: match by term: Hereditary elliptocytosis
RGD
ClinVar
PMID:17994571 RGD:11252097 NCBI chr 2:71,474,916...71,673,052
Ensembl chr 2:71,474,954...71,584,266
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
RGD
PMID:1737855, PMID:7742553, PMID:9312167, PMID:25741868 RGD:13208947 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:insertion:intron:
ClinVar Annotator: match by term: Hereditary elliptocytosis
ClinVar Annotator: match by term: Ovalocytosis
RGD
ClinVar
PMID:11154235, PMID:28492532 RGD:11059523 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary elliptocytosis
ClinVar Annotator: match by term: Ovalocytosis
CTD
ClinVar
PMID:1975598, PMID:19538529, PMID:25741868, PMID:28492532 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity ISO DNA:mutation: :
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:mutation:exon:p.E924X(mouse)
DNA:deletion mutation:exon:
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:deletion:cds:
RGD
ClinVar
PMID:8640229, PMID:9054656, PMID:14671619, PMID:19179303, PMID:21193012, PMID:23390527, PMID:23934996 RGD:11041609, RGD:11251674, RGD:11251675, RGD:11251676, RGD:11251680, RGD:11251681, RGD:1578350 NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutation:cds:p.G771D (human)
DNA:duplication:cds: (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD
ClinVar
RGD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO DNA:mutations:cds,splice junction:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO OMIM NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
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 OMIM NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO OMIM NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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 OMIM NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:26,490,012...26,561,542 JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248
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 chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151
JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr17:24,535,870...24,740,998
Ensembl chr17:24,535,897...24,740,889
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 6:730,345...743,916
Ensembl chr 6:730,358...779,424
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868, PMID:28492532 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
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:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:43,226,170...43,325,026
Ensembl chr 9:43,227,187...43,322,545
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949, PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740
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 chr19:52,720,427...52,921,064
Ensembl chr19:52,569,894...52,919,792
JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520
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 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
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 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
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 chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673
JBrowse link
G RYR1 ryanodine receptor 1 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 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
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 chr18:12,817,177...12,843,502
Ensembl chr18:12,808,806...12,843,076
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
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 chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11A BAF chromatin remodeling complex subunit BCL11A ISO OMIM NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
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 OMIM NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO OMIM NCBI chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732
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 OMIM NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899
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 chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932
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
RGD
CTD
PMID:11295830, PMID:16469290 RGD:1599771 NCBI chr10:22,829,898...22,848,284
Ensembl chr10:22,819,221...22,848,284
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr21:28,187,535...28,188,991 JBrowse link
Methemoglobinemia Type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB5A cytochrome b5 type A (microsomal) ISO OMIM NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932
JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO OMIM NCBI chr 6:40,324,378...40,325,427 JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO OMIM NCBI chr21:28,187,535...28,188,991 JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 ISO OMIM NCBI chr  X:83,401,728...83,517,565
Ensembl chr  X:83,406,049...83,517,498
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:83,639,071...83,650,359
Ensembl chr  X:83,643,872...83,650,356
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:83,219,530...83,384,900
Ensembl chr  X:83,219,505...83,381,564
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
IEA
Methaemoglobinaemia, CYB5R3-related OMIM
OMIA
PMID:28963729, PMID:29356095 NCBI chr10:22,829,898...22,848,284
Ensembl chr10:22,819,221...22,848,284
JBrowse link
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPI glucose-6-phosphate isomerase ISO OMIM NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO OMIM NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHAG Rh associated glycoprotein ISO OMIM NCBI chr12:17,433,660...17,454,323
Ensembl chr12:17,433,670...17,454,311
JBrowse link
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595
JBrowse link
G PKLR pyruvate kinase L/R IEA
ISO
Pyruvate kinase deficiency of erythrocyte OMIA
OMIM
PMID:1141034, PMID:1510326, PMID:2071475, PMID:4251418, PMID:5812576, PMID:7520391, PMID:7559024, PMID:10490091, PMID:14652850, PMID:16783707, PMID:22805166, PMID:23028826 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321
JBrowse link
G APOB apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
JBrowse link
G B9D2 B9 domain containing 2 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698, PMID:21998251, PMID:22360576 RGD:11099970, RGD:11099996, RGD:11100007 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597, PMID:7554454 RGD:11040773, RGD:11040777 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G CD36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255, PMID:20015873 RGD:11041114, RGD:6893506 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CFB complement factor B ISO protein:decreased activity RGD PMID:10440069, PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr12:1,400,143...1,406,267 JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:8191393, PMID:26286849 RGD:11565074, RGD:11565080 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064, PMID:20846340, PMID:22620981 RGD:11352756, RGD:11352757, RGD:11352775 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
JBrowse link
G HK1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211
JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:11238038, PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G LOC479668 haptoglobin-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LOC485255 hemoglobin subunit epsilon-2 severity ISO sickle cell anemia with hereditary persistence of fetal hemoglobin, OMIM:141749 DNA:point_mutation:promoter:-158C>T, decreases the severity of the sickle cell disease which results from the presence of the Hemoglobin S allele RGD PMID:2432426 RGD:1600594 NCBI chr21:28,193,163...28,194,746 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO OMIM NCBI chr21:28,187,535...28,188,991 JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity
no_association
ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)
RGD PMID:20113291, PMID:22924497 RGD:10449403, RGD:10449420 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOS3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:20408845, PMID:21689089 RGD:5685653 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8140855, PMID:14965870 RGD:10449460 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933
JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC479668 haptoglobin-like ISO RGD PMID:19023114, PMID:21595649 RGD:5147416, RGD:5147440 NCBI chr 5:77,795,183...77,800,034 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:12144055, PMID:14311973, PMID:19429541, PMID:26467025, PMID:26635043, PMID:27207683, PMID:27521855 NCBI chr21:28,187,535...28,188,991 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 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375
JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE ClinVar PMID:7786798 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC609402 hemoglobin subunit beta-like 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 NCBI chr21:28,187,535...28,188,991 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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 OMIM NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
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 NT5C3A 5'-nucleotidase, cytosolic IIIA ISO OMIM NCBI chr14:45,076,487...45,132,000
Ensembl chr14:45,077,099...45,131,905
JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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 phospholipid transporting 11C ISO OMIM NCBI chr  X:109,695,018...109,888,284
Ensembl chr  X:109,697,086...109,880,624
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 OMIM NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
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 OMIM NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12725
    Developmental Diseases 9009
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7850
        genetic disease 7390
          congenital hemolytic anemia 127
            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 + 7
            congenital nonspherocytic hemolytic anemia + 13
            dehydrated hereditary stomatocytosis + 2
            glucosephosphate dehydrogenase deficiency + 7
            hemoglobinopathy + 94
            hereditary elliptocytosis + 9
            hereditary spherocytosis + 10
            overhydrated hereditary stomatocytosis 1
            sickle cell anemia + 39
            thalassemia + 66
Path 2
Term Annotations click to browse term
  disease 12725
    disease of anatomical entity 12264
      Hemic and Lymphatic Diseases 1867
        hematopoietic system disease 1495
          anemia 386
            normocytic anemia 167
              hemolytic anemia 167
                congenital hemolytic anemia 127
                  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 + 7
                  congenital nonspherocytic hemolytic anemia + 13
                  dehydrated hereditary stomatocytosis + 2
                  glucosephosphate dehydrogenase deficiency + 7
                  hemoglobinopathy + 94
                  hereditary elliptocytosis + 9
                  hereditary spherocytosis + 10
                  overhydrated hereditary stomatocytosis 1
                  sickle cell anemia + 39
                  thalassemia + 66
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.