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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.


show annotations for term's descendants           Sort by:
 
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 chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CD46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
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 chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
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 chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
JBrowse link
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr14:45,287,879...45,327,708
Ensembl chr14:64,167,692...64,207,509
JBrowse link
G RHD Rh blood group D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 1:24,563,794...24,701,364 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:8841202, PMID:16227998 RGD:10450505, RGD:10450509 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868, PMID:26002053 NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
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 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HMOX1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
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 chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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 Ensembl chr16:157,767...158,559 JBrowse link
G HBQ1 hemoglobin subunit theta 1 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 Ensembl chr16:170,684...171,524 JBrowse link
G LOC100983830 hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576, PMID:2986746, PMID:3191033, PMID:8460633, PMID:9099846, PMID:10602170, PMID:11017952, PMID:24025420, PMID:26114741, PMID:28791910 Ensembl chr16:153,991...155,872 JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261
JBrowse link
G ATRX ATRX chromatin remodeler ISO OMIM NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
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:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
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:97,254,306...97,539,473
Ensembl chr  X:107,625,718...107,908,363
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 chr16:21,443,980...21,477,163 JBrowse link
G APOB apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G APOE apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G BCL11A BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
RGD PMID:22258351, PMID:23541515, PMID:25574177, PMID:25751242 RGD:11099969, RGD:11100005, RGD:11100008, RGD:11100011 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G CFB complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G GATA1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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 chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861
JBrowse link
G HBS1L HBS1 like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 6:132,732,351...132,826,210
Ensembl chr 6:136,832,884...136,922,957
JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutation: :p.C282Y (human)
DNA:missense mutations: :p.H63D, p.S65C (human)
RGD PMID:14703689, PMID:17160266 RGD:10755489, RGD:10755537 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
JBrowse link
G LOC100971425 somatotropin treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr17:58,010,848...58,013,421 JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO RGD PMID:12513847 RGD:11041746 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TFR2 transferrin receptor 2 ISO CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:liver:
CTD
RGD
PMID:16755567 RGD:11062138 NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver:
CTD
RGD
PMID:16755567 RGD:11062138 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PON1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
RGD
ClinVar
CTD
PMID:12434312, PMID:16098079 RGD:11081155, RGD:1600473 NCBI chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:15,503,685...15,734,015
Ensembl chr15:33,762,079...33,990,777
JBrowse link
G KLF1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
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 chr20:18,469,182...18,523,114
Ensembl chr20:18,440,121...18,493,512
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 chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
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 chr15:21,684,234...21,697,840
Ensembl chr15:39,838,604...39,851,562
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 chr15:15,503,685...15,734,015
Ensembl chr15:33,762,079...33,990,777
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 chr20:18,469,182...18,523,114
Ensembl chr20:18,440,121...18,493,512
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 chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100968898 cytochrome b5 ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647, PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732
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 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD
RGD
PMID:1999409, PMID:4125296, PMID:10666231, PMID:24923766 RGD:10449107, RGD:1599812 NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:point_mutation:CDS:1648A>G amino acid K550E
DNA:mutations:cds:
RGD PMID:8417789, PMID:9446754, PMID:17041899 RGD:11051849, RGD:11051955, RGD:1600633 NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
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 chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 7:33,608,746...33,657,380
Ensembl chr 7:34,009,467...34,057,740
JBrowse link
G PKLR pyruvate kinase L/R ISO DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:missense mutation:cds:p.R479H (human)
RGD PMID:1536957, PMID:7949104, PMID:8161798, PMID:11054094 RGD:11535979, RGD:11535981, RGD:11535983, RGD:11535987 NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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 chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBD hemoglobin subunit delta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286, PMID:1742490, PMID:3401592, PMID:11939506, PMID:12402333, PMID:15921167, PMID:16434382 NCBI chr11:5,381,854...5,383,637
Ensembl chr11:5,050,308...5,052,243
JBrowse link
G HBG2 hemoglobin subunit gamma 2 ISO OMIM NCBI chr11:5,402,198...5,407,442 JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBD hemoglobin subunit delta ISO ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar PMID:1301204, PMID:1309671, PMID:1398286, PMID:1515647, PMID:1742490, PMID:2018846, PMID:3401592, PMID:3676110, PMID:8118467, PMID:8330984, PMID:8364213, PMID:11939506, PMID:12402333, PMID:16434382, PMID:18221842, PMID:20678137, PMID:23215833, PMID:23806011, PMID:24601842, PMID:24985928, PMID:27387985 NCBI chr11:5,381,854...5,383,637
Ensembl chr11:5,050,308...5,052,243
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 1:28,158,807...28,390,541
Ensembl chr 1:29,284,923...29,416,474
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
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 OMIM NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
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 LOC100980404 cytochrome c oxidase subunit 4 isoform 2, mitochondrial ISO OMIM NCBI chr20:27,927,883...27,935,305
Ensembl chr20:29,061,447...29,067,440
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:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO OMIM NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
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:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
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: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
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:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
JBrowse link
G IFNG interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
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 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032
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 chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
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 1:28,158,807...28,390,541
Ensembl chr 1:29,284,923...29,416,474
JBrowse link
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
RGD
PMID:1737855, PMID:7742553, PMID:9312167, PMID:25741868 RGD:13208947 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
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 chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
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:deletion:cds:
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:transition mutation:intron:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:deletion mutation:exon:
DNA:mutation:exon:p.E924X(mouse)
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 chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673
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 chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425
JBrowse link
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:deletion:cds:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:polymorphisms:introns,exon:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
JBrowse link
G SPTB spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
mRNA:decreased expression:erythrocyte:
CTD
ClinVar
RGD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
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 chr 8:40,897,879...41,140,290
Ensembl chr 8:38,346,503...38,588,549
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 chr14:45,329,658...45,466,597
Ensembl chr14:64,209,453...64,288,851
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100981887 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:133,965,449...133,966,390 JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr 1:133,969,717...134,045,301
Ensembl chr 1:137,760,942...137,835,927
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO OMIM NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 chr15:22,157,831...22,183,254
Ensembl chr15:40,313,462...40,337,458
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 chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G C1H1orf105 chromosome 1 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763
JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671
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 chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715
JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:200,399,800...200,863,406 JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 8:99,954,523...99,989,153
Ensembl chr 8:102,110,317...102,144,363
JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr2A:30,923,029...31,150,626
Ensembl chr2A:30,995,180...31,221,784
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 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868, PMID:28492532 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
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:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228
JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr17:27,593,787...27,700,801
Ensembl chr17:28,116,279...28,208,301
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949, PMID:28492532 NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
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 chr2B:38,796,991...39,038,824 JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr 6:31,522,392...31,526,097
Ensembl chr 6:32,409,217...32,412,971
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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 chr11:47,387,324...47,398,579
Ensembl chr11:47,940,530...47,951,667
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 chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr10:76,571,312...76,575,820 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 chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
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 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:3,771,623...3,806,575
Ensembl chr16:4,942,191...4,970,986
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 chr 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
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 chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
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 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
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 chr2B:74,622,892...74,728,067
Ensembl chr2B:192,422,283...192,463,064
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 chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165
JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:20562208 RGD:10755319 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOC100968898 cytochrome b5 ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732
JBrowse link
G LOC100982559 NADH-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 chr22:23,513,724...23,544,746
Ensembl chr22:41,666,548...41,694,104
JBrowse link
Methemoglobinemia Type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100968898 cytochrome b5 ISO OMIM NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732
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:99,302,263...99,548,046
Ensembl chr  X:109,776,789...109,896,297
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:99,526,920...99,564,132
Ensembl chr  X:110,028,354...110,034,137
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:99,111,266...99,294,224
Ensembl chr  X:109,581,210...109,756,087
JBrowse link
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100982559 NADH-cytochrome b5 reductase 3 ISO OMIM NCBI chr22:23,513,724...23,544,746
Ensembl chr22:41,666,548...41,694,104
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 chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598
JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO OMIM NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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 chr 6:49,174,973...49,206,667
Ensembl chr 6:50,436,307...50,468,250
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 1:130,621,991...130,634,402
Ensembl chr 1:134,227,404...134,240,120
JBrowse link
G PKLR pyruvate kinase L/R ISO OMIM NCBI chr 1:130,634,111...130,646,644
Ensembl chr 1:134,239,565...134,251,351
JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784
JBrowse link
G APOB apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
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 chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597, PMID:7554454 RGD:11040773, RGD:11040777 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
JBrowse link
G CD36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255, PMID:20015873 RGD:11041114, RGD:6893506 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
JBrowse link
G CFB complement factor B ISO protein:decreased activity RGD PMID:10440069, PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:52,977,879...52,994,496
Ensembl chr16:71,854,238...71,870,673
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 chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050
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 chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G HBE1 hemoglobin subunit epsilon 1 treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399, PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr11:5,417,347...5,419,147
Ensembl chr11:5,085,677...5,087,483
JBrowse link
G HBG2 hemoglobin subunit gamma 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 chr11:5,402,198...5,407,442 JBrowse link
G HK1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:11238038, PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
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 chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20408845, PMID:21689089 RGD:5685653 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr14:55,494,152...55,508,066 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:8140855, PMID:14965870 RGD:10449460 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HBD hemoglobin subunit delta ISO ClinVar Annotator: match by term: Hemoglobin Lepore trait ClinVar PMID:701081, PMID:1347969, PMID:1693293, PMID:2442092, PMID:4625560, PMID:5356627, PMID:5660684, PMID:5964983, PMID:13892631, PMID:14133899, PMID:14478740, PMID:16114186, PMID:25741868, PMID:30311386 NCBI chr11:5,381,854...5,383,637
Ensembl chr11:5,050,308...5,052,243
JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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 chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
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 chr 7:33,608,746...33,657,380
Ensembl chr 7:34,009,467...34,057,740
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 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:23643401 RGD:11100023 NCBI chr17:13,131,851...13,150,872
Ensembl chr17:13,302,796...13,317,312
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:128,880,747...129,085,989
Ensembl chr  X:139,132,783...139,334,869
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:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
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:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    Developmental Diseases 9044
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7866
        genetic disease 7409
          congenital hemolytic anemia 130
            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 + 11
            dehydrated hereditary stomatocytosis + 2
            glucosephosphate dehydrogenase deficiency + 7
            hemoglobinopathy + 97
            hereditary elliptocytosis + 9
            hereditary spherocytosis + 10
            overhydrated hereditary stomatocytosis 1
            sickle cell anemia + 40
            thalassemia + 67
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      Hemic and Lymphatic Diseases 1859
        hematopoietic system disease 1494
          anemia 387
            normocytic anemia 172
              hemolytic anemia 172
                congenital hemolytic anemia 130
                  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 + 11
                  dehydrated hereditary stomatocytosis + 2
                  glucosephosphate dehydrogenase deficiency + 7
                  hemoglobinopathy + 97
                  hereditary elliptocytosis + 9
                  hereditary spherocytosis + 10
                  overhydrated hereditary stomatocytosis 1
                  sickle cell anemia + 40
                  thalassemia + 67
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.