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


show annotations for term's descendants           Sort by:
 
hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IDA RGD PMID:11952820 RGD:704364 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
JBrowse link
G Ak1 adenylate kinase 1 ISO
ISS
OMIM:266120 | OMIM:612631 MouseDO PMID:10233365 RGD:1300279 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr12:10,710,771...10,744,597
Ensembl chr12:10,705,874...10,744,573
JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 5:144,110,010...144,264,037
Ensembl chr 5:144,111,906...144,237,821
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:15982355 RGD:11040945 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:2502894 PMID:4794122 PMID:8562390 PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10515893 PMID:10733484 RGD:11049537 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO DNA:polymorphism:cds:p.G368R(human)
ClinVar Annotator: match by term: Hemolytic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8822954 PMID:32581362 PMID:22930244 RGD:11051847 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK
ClinVar Annotator: match by term: Hemoglobin Zurich
ClinVar Annotator: match by term: Hemolytic anemia
ClinVar Annotator: match by term: HEMOGLOBIN SABINE
ClinVar PMID:42311 PMID:439565 PMID:2363414 PMID:2705488 PMID:3138875 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin ISO associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: therapeutic
associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human)
CTD PMID:20547162 PMID:21274861 PMID:23933495 RGD:10766472, RGD:10766479 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISS OMIM:266120 | OMIM:612631 MouseDO NCBI chr 4:86,161,642...86,204,671
Ensembl chr 4:86,161,643...86,204,628
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:32581362 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Rhag Rh-associated glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr 9:20,069,800...20,097,836
Ensembl chr 9:20,069,807...20,097,836
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 PMID:32581362 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:9005995 PMID:25741868 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD PMID:25263931 PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD PMID:25130874 PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO
IAGP
DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human)
RGD PMID:4044827 PMID:14555303 PMID:24829075 PMID:4006915 PMID:9604545 More... RGD:10449442, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567 NCBI chr10:15,337,265...15,338,121 JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604131
ClinVar
CTD
OMIM
PMID:508945 PMID:538560 PMID:640847 PMID:949043 PMID:1428945 More... RGD:1599361, RGD:10449442 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: Alpha-thalassemia, Hmong type
ClinVar Annotator: match by term: HEMOGLOBIN KOYA DORA
associated with Anemia, Sickle Cell;
CTD
ClinVar
RGD
OMIM
PMID:478977 PMID:538560 PMID:620088 PMID:974034 PMID:1155453 More... RGD:10755568 NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: A-Thalassemia
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 More... RGD:11353869 NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr 1:158,224,175...158,231,675 JBrowse link
G Hbq1b hemoglobin subunit theta 1B ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr10:15,334,293...15,336,061
Ensembl chr10:15,320,762...15,321,397
JBrowse link
G Hbz hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 More... NCBI chr10:15,343,821...15,345,301
Ensembl chr10:15,343,831...15,345,312
JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: XLMR hypotonic face syndrome
ClinVar Annotator: match by term: Alpha-thalassemia X-linked mental retardation syndrome
ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
ClinVar Annotator: match by null
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
OMIM
ClinVar
PMID:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha-plus-thalassemia ClinVar PMID:11791872 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Alpha plus thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN
ClinVar PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 PMID:20642338 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:158,250,421...158,251,832 JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome
ClinVar Annotator: match by OMIM:300448
OMIM
ClinVar
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 More... NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA
ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr10:15,311,637...15,312,481 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:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar PMID:12753286 PMID:17187257 PMID:17627784 PMID:23715102 PMID:25741868 More... RGD:10449096 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 More... RGD:7364995, RGD:11040768 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 More... RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:106,575,586...106,606,325 JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar
OMIM
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:16518403 More... RGD:7242707, RGD:11040768 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
DNA:deletion
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:51,422,592...51,491,476
Ensembl chr13:51,422,592...51,491,502
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 More... RGD:6906889 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome
ClinVar
CTD
PMID:23542698 PMID:24511134 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 More... RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:18209093 PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
JBrowse link
G Tslp thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by OMIM:603902
OMIM
ClinVar
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
RGD PMID:23541515 PMID:25574177 PMID:25751242 PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr20:3,970,643...3,976,510 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 PMID:17299088 PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292142 NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta treatment ISO DNA:nonsense mutation:CDS:168C>T, p.Q39X (human)
ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: beta^0^ Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN SAKI
ClinVar Annotator: match by term: HEMOGLOBIN DURHAM-N.C.
ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE
ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN
ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE
ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON)
ClinVar Annotator: match by term: HEMOGLOBIN AGENOGI
ClinVar Annotator: match by term: Beta-thalassemia dominant
ClinVar Annotator: match by term: Beta-Houston-thalassemia
ClinVar Annotator: match by term: Beta thalassemia major
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613985
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple
ClinVar
CTD
OMIM
PMID:14973 PMID:27132 PMID:49057 PMID:81926 PMID:88735 More... RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hbs1l HBS1-like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:16,092,529...16,170,082
Ensembl chr 1:16,092,547...16,170,074
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human)
RGD PMID:14703689 PMID:17160266 PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Klf1 Kruppel like factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:12513847 RGD:11041746 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tfr2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia
ClinVar Annotator: match by term: Thalassemia intermedia
ClinVar PMID:291719 PMID:1301199 PMID:1463768 PMID:1586746 PMID:1634236 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-plus-thalassemia
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta thalassemia major
ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS
ClinVar Annotator: match by term: Hemoglobin E - beta-thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN SHOWA-YAKUSHIJI
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI
ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar PMID:14973 PMID:27132 PMID:49057 PMID:81926 PMID:88735 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by term: Cd59 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612300
OMIM
ClinVar
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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 ISO ClinVar Annotator: match by OMIM:224120
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar
CTD
PMID:16098079 RGD:11081155 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682
JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
JBrowse link
G Klf1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:104,252,001...104,408,349
Ensembl chr 9:104,252,001...104,408,349
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD
ClinVar
PMID:19561605 PMID:24033266 PMID:25741868 NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
JBrowse link
G Vps4a vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr19:34,934,999...34,948,267
Ensembl chr19:34,934,961...34,948,887
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 More... NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
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 DNA:missense mutations, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: CDA Ia
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple
ClinVar
OMIM
PMID:12434312 PMID:20301759 PMID:25741868 PMID:28492532 PMID:12434312 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 3:107,675,147...107,689,811
Ensembl chr 3:107,673,645...107,689,773
JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: CDA, TYPE Ib
ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
OMIM
ClinVar
PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:29885034 More... NCBI chr 3:102,441,553...102,646,935
Ensembl chr 3:102,441,704...102,646,682
JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II
ClinVar Annotator: match by term: CDA II
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:19561605 PMID:19621418 PMID:20015893 More... NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar
OMIM
PMID:1659863 PMID:21055716 PMID:21778342 PMID:23125034 PMID:23522491 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr13:106,575,586...106,606,325 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:8499925 PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar PMID:3839771 PMID:5713642 PMID:6877904 PMID:7852083 PMID:26467025 More... RGD:1600886 NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:95,265,756...95,308,952
Ensembl chr 6:95,266,058...95,310,359
JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 5:147,087,479...147,121,716
Ensembl chr 5:147,087,518...147,121,715
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:16227998 PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647 PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535
JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 3:15,912,431...15,923,045 JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISS OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 MouseDO NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD PMID:4125296 PMID:10666231 PMID:1999409 PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
MouseDO PMID:17041899 PMID:8417789 PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Hk1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
RGD PMID:7655856 PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:86,161,642...86,204,671
Ensembl chr 4:86,161,643...86,204,628
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
RGD PMID:7949104 PMID:11054094 PMID:8161798 PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 ClinVar
OMIM
PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:26148990 More... NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-beta thalassemia
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:11939506 PMID:12402333 More... NCBI chr 1:158,224,175...158,231,675 JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Sardinian hpfh
ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:811241 PMID:1373683 PMID:1374633 PMID:1379347 PMID:1487421 More... NCBI chr 1:158,271,993...158,273,371
Ensembl chr 1:158,271,873...158,273,425
JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 More... NCBI chr 1:158,224,175...158,231,675 JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Elliptocytosis 1
ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
ClinVar Annotator: match by OMIM:611804
OMIM
ClinVar
PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr 5:144,110,010...144,264,037
Ensembl chr 5:144,111,906...144,237,821
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
ClinVar Annotator: match by OMIM:130600
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Elliptocytosis 3
ClinVar Annotator: match by term: Spectrin providence
ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
ClinVar Annotator: match by term: Spectrin rouen
ClinVar
OMIM
PMID:1391962 PMID:2056132 PMID:7883966 PMID:8844207 PMID:9075575 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25414442 PMID:25640679 PMID:28492532 More... NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
ClinVar Annotator: match by OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275 PMID:25741868 PMID:19268275 RGD:11344905 NCBI chr 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331
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:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6PD MALAGA
ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: G6PD AURES
CTD
ClinVar
OMIM
PMID:5448 PMID:16832 PMID:848857 PMID:1303173 PMID:1303182 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
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 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by synonym: Hemolytic anemia due to G6PD deficiency
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5448 PMID:16832 PMID:472761 PMID:848857 PMID:1303173 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)
RGD PMID:15718915 PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
ClinVar Annotator: match by OMIM:230450
OMIM
ClinVar
PMID:10515893 PMID:25741868 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO OMIM NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hagh hydroxyacyl glutathione hydrolase ISO OMIM NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 More... RGD:9588626 NCBI chr13:93,539,360...93,564,065 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 chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemias
ClinVar Annotator: match by OMIM:140700
OMIM
CTD
ClinVar
PMID:2833478 PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Heinz body anemia OMIM
ClinVar
PMID:5639009 PMID:7558871 PMID:25741868 NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:186485 More... RGD:1600889 NCBI chr 1:158,250,421...158,251,832 JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
ClinVar Annotator: match by OMIM:614034
OMIM
ClinVar
PMID:9884342 PMID:33066778 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789 PMID:2239966 PMID:2412200 PMID:2888754 PMID:7137165 More... RGD:1600890 NCBI chr 1:158,250,421...158,251,832 JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
ClinVar Annotator: match by term: Hemoglobin D disease
ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:700140 PMID:893136 PMID:1960615 PMID:3031297 PMID:4351905 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 More... NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4413625 PMID:4841979 PMID:5851873 More... NCBI chr 1:158,250,421...158,251,832 JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2
ClinVar Annotator: match by term: HEMOGLOBIN ADANA
ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO
ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY
ClinVar Annotator: match by term: Hemoglobin Val de Marne
ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID
ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK
ClinVar Annotator: match by term: HEMOGLOBIN SINAI
ClinVar Annotator: match by term: HEMOGLOBIN ICARIA
ClinVar Annotator: match by term: Abnormal hemoglobin
ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES
ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO
ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE
ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hbb hemoglobin subunit beta severity ISO ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA
ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH)
ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT
ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO
ClinVar Annotator: match by term: HEMOGLOBIN TENDE
ClinVar Annotator: match by term: HEMOGLOBIN HIKARI
ClinVar Annotator: match by term: HEMOGLOBIN J (LOME)
ClinVar Annotator: match by term: HEMOGLOBIN SAALE
ClinVar Annotator: match by term: HEMOGLOBIN TYNE
ClinVar Annotator: match by term: HEMOGLOBIN YUSA
ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH
ClinVar Annotator: match by term: HEMOGLOBIN DEACONESS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8114 PMID:20942 PMID:88735 PMID:239943 PMID:598514 More... RGD:10449038 NCBI chr 1:158,250,421...158,251,832 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobinopathy ClinVar PMID:7510147 PMID:15315794 PMID:23491071 NCBI chr 1:158,224,175...158,231,675 JBrowse link
Hemolytic Anemia due to Adenylate Kinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Adenylate kinase deficiency, hemolytic anemia due to
ClinVar Annotator: match by OMIM:612631
OMIM
ClinVar
PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 3:15,912,431...15,923,045 JBrowse link
Hemolytic Anemia due to Glutathione Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO ClinVar Annotator: match by term: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency
ClinVar
OMIM
PMID:435643 PMID:947404 PMID:17185460 PMID:28492532 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
hemolytic anemia due to glutathione synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to OMIM
ClinVar
PMID:5476481 PMID:8896573 PMID:11167850 PMID:15717202 NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
RGD PMID:14615110 PMID:16189652 PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr13:106,575,586...106,606,325 JBrowse link
G Cfh complement factor H ISO
ISS
DNA:mutations, polymorphisms:promoter, exon:multiple
OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926
MouseDO PMID:14583443 RGD:11041164 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F2 coagulation factor II ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
hereditary elliptocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO
ISS
ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar
MouseDO
PMID:17994571 RGD:11252097 NCBI chr 5:144,110,010...144,264,037
Ensembl chr 5:144,111,906...144,237,821
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... RGD:13208947 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS
DNA:insertion:intron:
ClinVar Annotator: match by term: Ovalocytosis
OMIM:130600 | OMIM:611804
ClinVar Annotator: match by term: Hereditary elliptocytosis
ClinVar
MouseDO
PMID:28492532 PMID:11154235 RGD:11059523 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Hereditary elliptocytosis
CTD
ClinVar
PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis
ClinVar Annotator: match by OMIM:266140
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar PMID:25741868 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229 PMID:14671619 PMID:9054656 PMID:23390527 PMID:19179303 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
G Klf1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
ClinVar
CTD
PMID:1378323 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:8941647 PMID:24033266 PMID:25741868 PMID:27292444 PMID:28492532 More... RGD:11059521, RGD:11059522 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:19538529 RGD:11059526 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 More... NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736 PMID:3654760 PMID:6215583 PMID:7883966 PMID:8102379 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 4
ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
Hexokinase Deficiency Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia ClinVar PMID:6848140 PMID:7655856 PMID:12393545 PMID:25741868 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:59,579,851...59,823,977 JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
JBrowse link
G Dhcr24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:121,344,637...121,368,853
Ensembl chr 5:121,344,575...121,371,137
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:93,322,653...93,540,706 JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25741868 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 More... NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME
ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:20642338 More... NCBI chr10:15,311,637...15,312,481 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Fetal edema
ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25303977 PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:62,654,218...62,755,464
Ensembl chr10:62,654,281...62,755,468
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:25049390 PMID:25124994 PMID:25741868 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
ClinVar
OMIM
PMID:25741868 PMID:27453576 PMID:28891213 PMID:31474318 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125 PMID:29905864 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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 ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar
PMID:25741868 NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
ClinVar Annotator: match by OMIM:609628
OMIM
ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535
Ensembl chr18:78,202,342...78,258,535
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism
CTD PMID:16469290 PMID:11295830 RGD:1599771 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:20562208 RGD:10755319 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr10:15,323,830...15,324,677 JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr 1:158,250,421...158,251,832 JBrowse link
Methemoglobinemia Type IV term browser