Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:normocytic anemia
go back to main search page
Accession:DOID:720 term browser browse the term
Synonyms:primary_id: RDO:9002609
 xref: NCI:C35142
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD PMID:25263931, PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD PMID:25130874, PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO
IAGP
DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human)
RGD PMID:4044827, PMID:14555303, PMID:24829075, PMID:4006915, PMID:9604545, PMID:3680504 RGD:10449442, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567 NCBI chr10:15,602,794...15,603,649
Ensembl chr10:15,602,794...15,603,649
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: alpha Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604131
ClinVar
CTD
OMIM
PMID:508945 PMID:538560 PMID:640847 PMID:949043 PMID:1428945 PMID:1487419 PMID:1553958 PMID:2197725 PMID:2318293 PMID:2544542 PMID:2566576 PMID:2882671 PMID:2986746 PMID:3191033 PMID:3754245 PMID:3793931 PMID:4646552 PMID:4986187 PMID:5410724 PMID:5460202 PMID:5475469 PMID:5960254 PMID:6158051 PMID:6255436 PMID:6725558 PMID:6882779 PMID:7068434 PMID:7440717 PMID:7448125 PMID:7639274 PMID:7786798 PMID:7803274 PMID:7910813 PMID:8192150 PMID:8460633 PMID:8781536 PMID:9099846 PMID:10569720 PMID:10602170 PMID:11017952 PMID:11558897 PMID:12393486 PMID:12403490 PMID:13510789 PMID:13536534 PMID:13703277 PMID:13863929 PMID:14978697 PMID:15008259 PMID:15365991 PMID:15650030 PMID:16798638 PMID:19349619 PMID:20144601 PMID:20154289 PMID:20615730 PMID:21045395 PMID:21599435 PMID:21950764 PMID:22924376 PMID:23590659 PMID:23668236 PMID:23806041 PMID:24025420 PMID:24111644 PMID:24200101 PMID:24432778 PMID:24826792 PMID:24870139 PMID:25354131 PMID:25370869 PMID:25669128 PMID:25741868 PMID:26114741 PMID:26467025 PMID:26485748 PMID:26911300 PMID:27207683 PMID:28526955 PMID:28791910 PMID:29484903 PMID:30864493, PMID:6490612, PMID:4044827 RGD:1599361, RGD:10449442 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 severity ISO associated with Anemia, Sickle Cell; OMIM
RGD
PMID:9604545 RGD:10755568 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: A-Thalassemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:88735 PMID:1347969 PMID:1390250 PMID:1427786 PMID:1463768 PMID:1483699 PMID:1634236 PMID:1634368 PMID:1693293 PMID:1734721 PMID:1769663 PMID:1917531 PMID:1967205 PMID:2004023 PMID:2200760 PMID:2298457 PMID:2442092 PMID:2446680 PMID:2577233 PMID:2713503 PMID:2867271 PMID:2898955 PMID:2903765 PMID:3422218 PMID:3462712 PMID:4625560 PMID:5660684 PMID:5964983 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6270663 PMID:6280057 PMID:6304979 PMID:6457059 PMID:6583702 PMID:6585831 PMID:6714226 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7522523 PMID:7558878 PMID:7668219 PMID:8095930 PMID:8330981 PMID:8373896 PMID:8602996 PMID:8619407 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9401495 PMID:9490703 PMID:10335989 PMID:10612821 PMID:11559932 PMID:11857746 PMID:11939510 PMID:12144057 PMID:12764548 PMID:13892631 PMID:14133899 PMID:14576320 PMID:15108284 PMID:15654898 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17331080 PMID:17365006 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19254853 PMID:20132300 PMID:20301599 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20704537 PMID:21119755 PMID:21228398 PMID:21389146 PMID:21417574 PMID:21797703 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:24033266 PMID:24857915 PMID:25087612 PMID:25089872 PMID:25155404 PMID:25332589 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26097845 PMID:26193974 PMID:26467025 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28366028 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:29695942 PMID:31714438 PMID:32581362 PMID:32860008, PMID:14555303 RGD:11353869 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G 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 PMID:5964983 PMID:13892631 PMID:14133899 PMID:25741868 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
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 PMID:8781536 PMID:10602170 PMID:11017952 PMID:12393486 PMID:15650030 PMID:20154289 PMID:21599435 PMID:23590659 PMID:24025420 PMID:30864493 NCBI chr10:15,599,821...15,602,680
Ensembl chr10:15,600,220...15,600,858
JBrowse link
G Hbz hemoglobin subunit zeta ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 PMID:10602170 PMID:11017952 PMID:24025420 PMID:26114741 PMID:28791910 NCBI chr10:15,609,348...15,610,826
Ensembl chr10:15,609,358...15,610,826
JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: 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 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10995512 PMID:12116232 PMID:12673795 PMID:15591283 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17576681 PMID:17579672 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24327140 PMID:24728327 PMID:24759409 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284, PMID:24289169, PMID:24327140, PMID:24805811 RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Alpha-plus-thalassemia ClinVar PMID:11791872 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G 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 Annotator: match by term: Alpha-thalassemia, dutch type
ClinVar PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 PMID:20642338 PMID:23614625 PMID:26365411 PMID:26467025 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome
ClinVar Annotator: match by OMIM:300448
OMIM
ClinVar
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 PMID:25342395 PMID:26467025 PMID:27173219 PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA
ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 PMID:2468982 PMID:3177365 PMID:3620699 PMID:4422784 PMID:4623704 PMID:4944483 PMID:6725554 PMID:7327587 PMID:7701914 PMID:7734346 PMID:7969150 PMID:8193381 PMID:8555062 PMID:8602995 PMID:9057661 PMID:9322079 PMID:9629496 PMID:10722113 PMID:11410420 PMID:11570724 PMID:12393486 PMID:15921163 PMID:16116675 PMID:17164653 PMID:18473243 PMID:20507641 PMID:21077766 PMID:21077767 PMID:21637442 PMID:23368878 PMID:23901141 PMID:24829075 PMID:25523870 PMID:25741868 PMID:26467025 PMID:26956449 PMID:27271331 PMID:28492532 PMID:31933393 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
AMME complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO OMIM NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar PMID:12753286 PMID:17187257 PMID:17627784 PMID:28492532, PMID:12640381 RGD:10449096 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: atypical hemolytic uremic syndrome ClinVar NCBI chr 5:64,768,397...64,777,368
Ensembl chr 5:64,768,401...64,777,368
JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:24033266 PMID:24652797 PMID:25741868 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G C3 complement C3 susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612925
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human)
ClinVar
CTD
OMIM
PMID:1976733 PMID:14639503 PMID:17634448 PMID:18325906 PMID:18796626 PMID:19168221 PMID:20301541 PMID:20595690 PMID:23314101 PMID:23431077 PMID:24036949 PMID:24036950 PMID:24036952 PMID:24736606 PMID:24845532 PMID:25608561 PMID:25741868 PMID:25951460 PMID:26613027 PMID:28492532 PMID:30131807, PMID:17517971, PMID:20513133 RGD:7364995, RGD:11040768 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 ClinVar NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd46 CD46 molecule susceptibility
severity
ISO ClinVar Annotator: match by OMIM:612922
ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human)
DNA:mutations:cds:multiple (human)
ClinVar
OMIM
CTD
PMID:270646 PMID:3480783 PMID:9551389 PMID:10528197 PMID:14566051 PMID:14615110 PMID:16621965 PMID:16762990 PMID:16882452 PMID:17089378 PMID:20513133 PMID:21706448 PMID:23431077 PMID:23731345 PMID:24033266 PMID:24161037 PMID:24247905 PMID:24944786 PMID:25381125 PMID:25525159 PMID:25741868 PMID:25899302 PMID:26054645 PMID:26307634 PMID:26559391 PMID:28056875 PMID:28492532, PMID:16353080, PMID:20513133, PMID:17914026, PMID:20595690 RGD:11352810, RGD:11040768, RGD:11352768, RGD:11038684 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfb complement factor B susceptibility ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple
ClinVar Annotator: match by OMIM:612924
ClinVar
OMIM
CTD
PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 PMID:16518403 PMID:16936732 PMID:17182750 PMID:18806293 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22440158 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779, PMID:17182750, PMID:20513133 RGD:7242707, RGD:11040768 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H susceptibility ISO
IMP
DNA:missense mutation
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
ClinVar Annotator: match by OMIM:235400
DNA:deletion:Cds:
DNA:SNPs,Haplotype::
ClinVar
OMIM
CTD
PMID:646435 PMID:8072530 PMID:9551389 PMID:9811382 PMID:9848786 PMID:10577907 PMID:10762557 PMID:11158219 PMID:11170895 PMID:11170896 PMID:11978762 PMID:12424708 PMID:12697737 PMID:14978182 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18268093 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:20513133 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532 PMID:29888403, PMID:10577907, PMID:9811382, PMID:23243267, PMID:20513133, PMID:17517971, PMID:17517971, PMID:17517971 RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995, RGD:7364995, RGD:7364995 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO ClinVar Annotator: match by OMIM:235400
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, PMID:23243267 RGD:11041162 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cfi complement factor I susceptibility ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612923
ClinVar
CTD
OMIM
PMID:15173250 PMID:16621965 PMID:18557729 PMID:18825487 PMID:19877009 PMID:20016463 PMID:20106822 PMID:20203157 PMID:20513133 PMID:20595690 PMID:22710145 PMID:23307876 PMID:23314101 PMID:23431077 PMID:23685748 PMID:23787556 PMID:24033266 PMID:24034049 PMID:24036952 PMID:24161037 PMID:25037630 PMID:25135378 PMID:25741868 PMID:25758434 PMID:27268256 PMID:28282489 PMID:28492532, PMID:15173250 RGD:6906889 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
JBrowse link
G 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 PMID:9848783 PMID:10094548 PMID:19344236 PMID:23720012 PMID:25741868 PMID:27627812 PMID:28492532 PMID:30577881 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
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 chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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 PMID:19370762 PMID:19760748 PMID:20549364 PMID:20610126 PMID:20631720 PMID:23757202 PMID:23837176 PMID:24033266 PMID:24126030 PMID:24599607 PMID:25687216 PMID:25741868 PMID:25894566 PMID:28492532 PMID:29396438 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome ClinVar NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link
G RGD1564614 similar to complement factor H-related protein susceptibility ISO ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to
ClinVar
CTD
OMIM
PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G 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 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
JBrowse link
G Thbd thrombomodulin susceptibility
no_association
severity
ISO ClinVar Annotator: match by OMIM:612926
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6
ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple
ClinVar
OMIM
CTD
PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:17677000 PMID:19625716 PMID:23332921 PMID:24933457 PMID:25135378 PMID:25741868 PMID:28492532, PMID:19625716, PMID:19625716, PMID:20595690 RGD:11038691, RGD:11038691, RGD:11038684 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:18209093, PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:74,461,064...74,504,475
Ensembl chr18:74,461,055...74,485,139
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
JBrowse link
G Tslp thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
ClinVar Annotator: match by OMIM:603902
OMIM
ClinVar
PMID:49057 PMID:81926 PMID:88735 PMID:909565 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428943 PMID:1463768 PMID:1483699 PMID:1517108 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1802884 PMID:1814858 PMID:1917531 PMID:1967205 PMID:1971109 PMID:1986365 PMID:1986379 PMID:2004023 PMID:2014803 PMID:2123063 PMID:2200760 PMID:2207008 PMID:2296310 PMID:2298457 PMID:2446680 PMID:2458145 PMID:2460127 PMID:2467892 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2713503 PMID:2867271 PMID:2875755 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3014870 PMID:3021607 PMID:3048433 PMID:3170235 PMID:3354556 PMID:3417300 PMID:3422218 PMID:3457470 PMID:3462712 PMID:3690667 PMID:3752087 PMID:3799593 PMID:3821796 PMID:3957690 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:6019668 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6434492 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6714226 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7522523 PMID:7558878 PMID:7632967 PMID:7668219 PMID:7993409 PMID:8095930 PMID:8161774 PMID:8199597 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8917506 PMID:8978308 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9163586 PMID:9401495 PMID:9490703 PMID:9859938 PMID:9875660 PMID:10335989 PMID:10367791 PMID:10602954 PMID:10612821 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857738 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12124399 PMID:12144057 PMID:12368169 PMID:12764548 PMID:12779270 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13852872 PMID:14576320 PMID:15108284 PMID:15395398 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17932132 PMID:18048408 PMID:18081706 PMID:18192399 PMID:18294253 PMID:18603555 PMID:18654889 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19372376 PMID:19437135 PMID:19460936 PMID:19758965 PMID:19958185 PMID:20132300 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20532507 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21228398 PMID:21232998 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22074124 PMID:22075726 PMID:22180324 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24080465 PMID:24265529 PMID:24450243 PMID:24493127 PMID:24828949 PMID:24857915 PMID:24880717 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25155404 PMID:25332589 PMID:25408857 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26877226 PMID:26901597 PMID:26948378 PMID:26956563 PMID:27207683 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27756326 PMID:27821015 PMID:27823958 PMID:28356267 PMID:28366028 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28802248 PMID:29695942 PMID:31268351 PMID:31553106 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
RGD PMID:23541515, PMID:25574177, PMID:25751242, PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hamp hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567, PMID:17299088, PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 PMID:26467025 PMID:27207683 PMID:28526955 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17292142 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
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 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 DURHAM-N.C.
ClinVar Annotator: match by term: HEMOGLOBIN SAKI
ClinVar Annotator: match by term: HEMOGLOBIN HOFU
ClinVar Annotator: match by term: HEMOGLOBIN AGENOGI
ClinVar Annotator: match by term: Beta-thalassemia dominant
ClinVar Annotator: match by term: Beta-Houston-thalassemia
ClinVar Annotator: match by term: Beta thalassemia major
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613985
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple
ClinVar
CTD
OMIM
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:237566 PMID:239952 PMID:287080 PMID:291719 PMID:429843 PMID:457425 PMID:598514 PMID:640855 PMID:700140 PMID:711920 PMID:721611 PMID:721614 PMID:750553 PMID:750554 PMID:808079 PMID:893136 PMID:909565 PMID:932531 PMID:992050 PMID:998617 PMID:1052173 PMID:1052174 PMID:1112610 PMID:1163074 PMID:1177278 PMID:1244906 PMID:1272328 PMID:1301199 PMID:1301203 PMID:1301930 PMID:1301952 PMID:1353069 PMID:1374896 PMID:1376298 PMID:1384315 PMID:1390250 PMID:1398296 PMID:1420507 PMID:1427786 PMID:1428943 PMID:1428944 PMID:1428946 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1487424 PMID:1511973 PMID:1515453 PMID:1515649 PMID:1517107 PMID:1517108 PMID:1517110 PMID:1517111 PMID:1520612 PMID:1536956 PMID:1545796 PMID:1550780 PMID:1577489 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1686262 PMID:1698102 PMID:1705411 PMID:1709134 PMID:1716997 PMID:1719807 PMID:1728311 PMID:1729892 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1772786 PMID:1777603 PMID:1787101 PMID:1802884 PMID:1814858 PMID:1850955 PMID:1856830 PMID:1873227 PMID:1897518 PMID:1917531 PMID:1951306 PMID:1954392 PMID:1960615 PMID:1967205 PMID:1971109 PMID:1974422 PMID:1986365 PMID:1986379 PMID:1995096 PMID:2001456 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2043469 PMID:2070092 PMID:2071159 PMID:2079434 PMID:2079437 PMID:2120891 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2239966 PMID:2265836 PMID:2272839 PMID:2272840 PMID:2283297 PMID:2283299 PMID:2283303 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2310691 PMID:2346726 PMID:2366586 PMID:2375910 PMID:2375912 PMID:2393018 PMID:2393712 PMID:2399911 PMID:2412200 PMID:2424301 PMID:2430648 PMID:2434529 PMID:2439149 PMID:2440502 PMID:2446680 PMID:2456798 PMID:2458145 PMID:2460127 PMID:2467892 PMID:2525253 PMID:2539344 PMID:2542242 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606727 PMID:2634667 PMID:2634674 PMID:2665856 PMID:2703241 PMID:2703363 PMID:2703366 PMID:2703367 PMID:2703368 PMID:2713503 PMID:2730955 PMID:2736244 PMID:2741940 PMID:2753736 PMID:2775294 PMID:2804366 PMID:2816924 PMID:2822177 PMID:2837728 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2897787 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2901867 PMID:2903765 PMID:2915972 PMID:2917118 PMID:2917193 PMID:2920213 PMID:2920214 PMID:2921044 PMID:2987224 PMID:2987809 PMID:3002527 PMID:3006832 PMID:3014870 PMID:3021139 PMID:3021607 PMID:3024968 PMID:3031297 PMID:3048433 PMID:3108201 PMID:3114175 PMID:3115700 PMID:3170235 PMID:3354556 PMID:3382401 PMID:3384706 PMID:3384712 PMID:3387213 PMID:3403716 PMID:3408672 PMID:3417300 PMID:3422218 PMID:3446652 PMID:3457470 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3671081 PMID:3683554 PMID:3689700 PMID:3690667 PMID:3752087 PMID:3754244 PMID:3780671 PMID:3799593 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3923770 PMID:3942130 PMID:3955238 PMID:3957690 PMID:3957694 PMID:4018033 PMID:4078867 PMID:4086306 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4413625 PMID:4512457 PMID:4808644 PMID:4841979 PMID:4981790 PMID:4991321 PMID:4994348 PMID:5022448 PMID:5050915 PMID:5097135 PMID:5129589 PMID:5283757 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5634912 PMID:5658717 PMID:5672850 PMID:5710451 PMID:5791015 PMID:5851873 PMID:5856115 PMID:5863839 PMID:5915974 PMID:5925329 PMID:5972415 PMID:5996551 PMID:6019668 PMID:6021187 PMID:6033745 PMID:6054484 PMID:6086605 PMID:6089938 PMID:6101206 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6248489 PMID:6251466 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6280138 PMID:6285354 PMID:6292840 PMID:6298782 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6318797 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6646217 PMID:6664996 PMID:6668188 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6826539 PMID:6852251 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7141876 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7204093 PMID:7204096 PMID:7204097 PMID:7229029 PMID:7312624 PMID:7338475 PMID:7372598 PMID:7395858 PMID:7507641 PMID:7522523 PMID:7530406 PMID:7558874 PMID:7558878 PMID:7558879 PMID:7599641 PMID:7615400 PMID:7632967 PMID:7655036 PMID:7663000 PMID:7668219 PMID:7668221 PMID:7669681 PMID:7683931 PMID:7713749 PMID:7755625 PMID:7759073 PMID:7794779 PMID:7795641 PMID:7819068 PMID:7852087 PMID:7864023 PMID:7899267 PMID:7908281 PMID:7909640 PMID:7928376 PMID:7929232 PMID:7993409 PMID:8019567 PMID:8037185 PMID:8037197 PMID:8042613 PMID:8081396 PMID:8091935 PMID:8094943 PMID:8095930 PMID:8111050 PMID:8112743 PMID:8144356 PMID:8144358 PMID:8161774 PMID:8172199 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8225319 PMID:8226099 PMID:8251381 PMID:8257991 PMID:8262525 PMID:8270260 PMID:8318995 PMID:8330972 PMID:8330981 PMID:8338769 PMID:8373896 PMID:8435318 PMID:8438884 PMID:8462981 PMID:8477263 PMID:8485062 PMID:8518184 PMID:8537236 PMID:8562944 PMID:8602996 PMID:8619407 PMID:8629112 PMID:8638609 PMID:8682512 PMID:8703815 PMID:8718699 PMID:8718703 PMID:8811316 PMID:8839873 PMID:8856098 PMID:8874232 PMID:8889595 PMID:8917506 PMID:8952150 PMID:8978308 PMID:8980256 PMID:9028819 PMID:9028827 PMID:9048934 PMID:9101282 PMID:9101288 PMID:9113933 PMID:9140717 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9234571 PMID:9340427 PMID:9342003 PMID:9353871 PMID:9371531 PMID:9401495 PMID:9415845 PMID:9427726 PMID:9450794 PMID:9490703 PMID:9494052 PMID:9494053 PMID:9495372 PMID:9556665 PMID:9560205 PMID:9629504 PMID:9653159 PMID:9730368 PMID:9792288 PMID:9830011 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10081986 PMID:10203101 PMID:10233364 PMID:10335988 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10569722 PMID:10583251 PMID:10602954 PMID:10606872 PMID:10612821 PMID:10706767 PMID:10756381 PMID:10776695 PMID:10815781 PMID:10840054 PMID:10861818 PMID:10870887 PMID:10997336 PMID:11001883 PMID:11179419 PMID:11186262 PMID:11186264 PMID:11300343 PMID:11300348 PMID:11300351 PMID:11300352 PMID:11425418 PMID:11480785 PMID:11532628 PMID:11545326 PMID:11559932 PMID:11570721 PMID:11713529 PMID:11722417 PMID:11741197 PMID:11791873 PMID:11791874 PMID:11791878 PMID:11830454 PMID:11857738 PMID:11857746 PMID:11880644 PMID:11939510 PMID:11939511 PMID:11939518 PMID:11939519 PMID:11943067 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12144059 PMID:12144066 PMID:12149194 PMID:12172041 PMID:12189174 PMID:12210807 PMID:12324499 PMID:12353305 PMID:12368169 PMID:12383672 PMID:12403488 PMID:12403491 PMID:12403498 PMID:12430907 PMID:12488606 PMID:12508270 PMID:12709369 PMID:12752111 PMID:12764548 PMID:12779270 PMID:12779277 PMID:12850492 PMID:12885342 PMID:12908806 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13509426 PMID:13590135 PMID:13618691 PMID:13634986 PMID:13685866 PMID:13716727 PMID:13716853 PMID:13852872 PMID:13872094 PMID:13897827 PMID:13911805 PMID:14081243 PMID:14160125 PMID:14282052 PMID:14343445 PMID:14405428 PMID:14452533 PMID:14492555 PMID:14555318 PMID:14576320 PMID:14613965 PMID:14649318 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15008262 PMID:15008267 PMID:15009072 PMID:15108284 PMID:15114532 PMID:15153712 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15315794 PMID:15395398 PMID:15470211 PMID:15481884 PMID:15481885 PMID:15481886 PMID:15481893 PMID:15481896 PMID:15641237 PMID:15654898 PMID:15658184 PMID:15658193 PMID:15697092 PMID:15761692 PMID:15768552 PMID:15929117 PMID:15933066 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16114184 PMID:16114187 PMID:16126871 PMID:16175509 PMID:16178917 PMID:16225661 PMID:16266911 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16466947 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16732578 PMID:16750922 PMID:16755567 PMID:16821247 PMID:16987798 PMID:16987801 PMID:17007829 PMID:17008283 PMID:17018382 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365003 PMID:17365006 PMID:17486493 PMID:17486497 PMID:17486505 PMID:17565724 PMID:17598223 PMID:17606453 PMID:17654075 PMID:17655700 PMID:17768122 PMID:17774955 PMID:17900295 PMID:17932132 PMID:17949282 PMID:17994377 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18076350 PMID:18081706 PMID:18096416 PMID:18105244 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18339318 PMID:18403562 PMID:18473247 PMID:18473248 PMID:18486569 PMID:18495504 PMID:18523401 PMID:18568278 PMID:18591626 PMID:18603555 PMID:18619001 PMID:18654889 PMID:18694524 PMID:18818920 PMID:18829352 PMID:18932067 PMID:18932071 PMID:18954999 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19103851 PMID:19125249 PMID:19205970 PMID:19205975 PMID:19254853 PMID:19290524 PMID:19372376 PMID:19429541 PMID:19437135 PMID:19440680 PMID:19460936 PMID:19486366 PMID:19488752 PMID:19631632 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19750260 PMID:19758965 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19958185 PMID:19960060 PMID:20035706 PMID:20110664 PMID:20113284 PMID:20113289 PMID:20113295 PMID:20113296 PMID:20132300 PMID:20181291 PMID:20230396 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20324533 PMID:20353354 PMID:20395516 PMID:20406103 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20524821 PMID:20532507 PMID:20642331 PMID:20642337 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20854126 PMID:20861612 PMID:20954261 PMID:20975770 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21194265 PMID:21228398 PMID:21232998 PMID:21250876 PMID:21250885 PMID:21302591 PMID:21333566 PMID:21353607 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21704277 PMID:21732929 PMID:21797702 PMID:21797703 PMID:21801233 PMID:21845419 PMID:21879898 PMID:21892914 PMID:21931510 PMID:21978377 PMID:22010933 PMID:22028795 PMID:22074124 PMID:22075726 PMID:22109911 PMID:22110956 PMID:22122796 PMID:22145566 PMID:22180324 PMID:22188014 PMID:22200002 PMID:22233277 PMID:22239493 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22356097 PMID:22392582 PMID:22409273 PMID:22563936 PMID:22625666 PMID:22675570 PMID:22690826 PMID:22734587 PMID:22738610 PMID:22738642 PMID:22851993 PMID:22875618 PMID:22896714 PMID:22898041 PMID:22975760 PMID:22981786 PMID:22983591 PMID:23001606 PMID:23106651 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23362932 PMID:23383304 PMID:23398055 PMID:23425204 PMID:23457306 PMID:23510507 PMID:23525874 PMID:23586372 PMID:23590330 PMID:23590658 PMID:23606168 PMID:23637309 PMID:23647352 PMID:23651435 PMID:23665927 PMID:23729725 PMID:23806067 PMID:23812938 PMID:23859443 PMID:23878091 PMID:23889802 PMID:23975182 PMID:24033266 PMID:24052702 PMID:24052746 PMID:24055728 PMID:24065537 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24123366 PMID:24200101 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24450243 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24682197 PMID:24719849 PMID:24744638 PMID:24744675 PMID:24754789 PMID:24814631 PMID:24828949 PMID:24857915 PMID:24878022 PMID:24880717 PMID:24986053 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25130136 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25268796 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25412720 PMID:25469539 PMID:25471338 PMID:25480500 PMID:25525159 PMID:25525381 PMID:25526804 PMID:25541274 PMID:25572182 PMID:25572186 PMID:25572187 PMID:25617386 PMID:25657036 PMID:25666204 PMID:25669128 PMID:25677748 PMID:25682598 PMID:25741868 PMID:25754248 PMID:25762031 PMID:25806420 PMID:25818823 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25905082 PMID:25910213 PMID:25976460 PMID:26029792 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26084319 PMID:26096710 PMID:26097845 PMID:26182339 PMID:26193974 PMID:26202972 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26372199 PMID:26372288 PMID:26402558 PMID:26410419 PMID:26418075 PMID:26436569 PMID:26467025 PMID:26524961 PMID:26554253 PMID:26554738 PMID:26554862 PMID:26594346 PMID:26635043 PMID:26715484 PMID:26850598 PMID:26877226 PMID:26901597 PMID:26948378 PMID:26956563 PMID:27032675 PMID:27117567 PMID:27117572 PMID:27207683 PMID:27251090 PMID:27258795 PMID:27263053 PMID:27264598 PMID:27339814 PMID:27351925 PMID:27408413 PMID:27427187 PMID:27453201 PMID:27492766 PMID:27535164 PMID:27690257 PMID:27718361 PMID:27756326 PMID:27765567 PMID:27785405 PMID:27821015 PMID:27823958 PMID:27828729 PMID:27829298 PMID:27848919 PMID:27981798 PMID:28125089 PMID:28276871 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28460555 PMID:28475449 PMID:28492532 PMID:28503568 PMID:28603845 PMID:28635337 PMID:28643346 PMID:28670940 PMID:28670947 PMID:28671035 PMID:28680605 PMID:28768465 PMID:28794124 PMID:28800727 PMID:28802248 PMID:28865746 PMID:29076137 PMID:29082517 PMID:29157184 PMID:29171316 PMID:29182041 PMID:29188602 PMID:29251008 PMID:29313434 PMID:29464999 PMID:29484903 PMID:29695942 PMID:29893155 PMID:30047296 PMID:30173596 PMID:30205726 PMID:30422720 PMID:30489691 PMID:30626236 PMID:30626242 PMID:30809867 PMID:30843739 PMID:31106603 PMID:31108495 PMID:31164695 PMID:31240559 PMID:31268351 PMID:31395865 PMID:31397596 PMID:31553106 PMID:31714438 PMID:31766235 PMID:32001505 PMID:32581362 PMID:32860008 PMID:32986258, PMID:6457059, PMID:16631345, PMID:3033668, PMID:6280057 RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbs1l HBS1-like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:16,819,170...16,896,234
Ensembl chr 1:16,819,170...16,896,219
JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human)
RGD PMID:14703689, PMID:17160266, PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klf1 Kruppel like factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:12513847 RGD:11041746 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tfr2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
G Tfrc transferrin receptor ISO mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD PMID:16755567, PMID:16755567 RGD:11062138 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta thalassemia intermedia
ClinVar Annotator: match by term: Thalassemia intermedia
ClinVar PMID:291719 PMID:1301199 PMID:1463768 PMID:1586746 PMID:1634236 PMID:1917531 PMID:1954392 PMID:2200760 PMID:2310691 PMID:2375912 PMID:2399911 PMID:2446680 PMID:2458145 PMID:2634667 PMID:2634674 PMID:2837728 PMID:2917193 PMID:2920213 PMID:3002527 PMID:3446652 PMID:6188062 PMID:6280057 PMID:7507641 PMID:7530406 PMID:7599641 PMID:7655036 PMID:7794779 PMID:8037185 PMID:8111050 PMID:8438884 PMID:8477263 PMID:8874232 PMID:8980256 PMID:9028819 PMID:9101288 PMID:9140720 PMID:10870887 PMID:11300352 PMID:11532628 PMID:11809258 PMID:11857738 PMID:11857746 PMID:12144056 PMID:12324499 PMID:12709369 PMID:14555318 PMID:15658193 PMID:17007829 PMID:17145605 PMID:17365006 PMID:17606453 PMID:17994378 PMID:18076350 PMID:18294253 PMID:18339318 PMID:18603555 PMID:19103851 PMID:19460936 PMID:20437613 PMID:20704537 PMID:21119755 PMID:21228398 PMID:21845419 PMID:22975760 PMID:23525874 PMID:25087612 PMID:25155404 PMID:25370867 PMID:25480500 PMID:25617386 PMID:25825561 PMID:25910213 PMID:26029792 PMID:26041423 PMID:26467025 PMID:27263053 PMID:27756326 PMID:27828729 PMID:28125089 PMID:28276871 PMID:28385923 PMID:28492532 PMID:29893155 PMID:31240559 PMID:31395865 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Beta-plus-thalassemia
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Beta thalassemia major
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS
ClinVar Annotator: match by term: Hemoglobin E - beta-thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN SHOWA-YAKUSHIJI
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI
ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:291719 PMID:429843 PMID:700140 PMID:721609 PMID:721611 PMID:721614 PMID:750553 PMID:808079 PMID:893136 PMID:909565 PMID:932531 PMID:1052173 PMID:1112610 PMID:1163074 PMID:1177278 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1374896 PMID:1376298 PMID:1384315 PMID:1390250 PMID:1420507 PMID:1427786 PMID:1428944 PMID:1428947 PMID:1463768 PMID:1483699 PMID:1487424 PMID:1517108 PMID:1517111 PMID:1550780 PMID:1581247 PMID:1586746 PMID:1610915 PMID:1634236 PMID:1634366 PMID:1634368 PMID:1680789 PMID:1705411 PMID:1709134 PMID:1729892 PMID:1732017 PMID:1734721 PMID:1740317 PMID:1769663 PMID:1772786 PMID:1787101 PMID:1802884 PMID:1850955 PMID:1856830 PMID:1873227 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1971109 PMID:1985702 PMID:1986365 PMID:1986379 PMID:2001456 PMID:2004023 PMID:2005117 PMID:2014803 PMID:2018842 PMID:2079437 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2207008 PMID:2239966 PMID:2265836 PMID:2291577 PMID:2296310 PMID:2298457 PMID:2298920 PMID:2306523 PMID:2307460 PMID:2310691 PMID:2346726 PMID:2366586 PMID:2375910 PMID:2375912 PMID:2393018 PMID:2393712 PMID:2412200 PMID:2424301 PMID:2430648 PMID:2434529 PMID:2439149 PMID:2446680 PMID:2458145 PMID:2460127 PMID:2467892 PMID:2539344 PMID:2563949 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606727 PMID:2634667 PMID:2634674 PMID:2703241 PMID:2703363 PMID:2703366 PMID:2713503 PMID:2736244 PMID:2741940 PMID:2753736 PMID:2775294 PMID:2822177 PMID:2837728 PMID:2867271 PMID:2875755 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2897787 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2915972 PMID:2917193 PMID:2920213 PMID:2987224 PMID:2987809 PMID:3002527 PMID:3014870 PMID:3021139 PMID:3021607 PMID:3024968 PMID:3031297 PMID:3048433 PMID:3114175 PMID:3115700 PMID:3170235 PMID:3354556 PMID:3382401 PMID:3387213 PMID:3403716 PMID:3417300 PMID:3422218 PMID:3457470 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3671081 PMID:3683554 PMID:3690667 PMID:3752087 PMID:3754244 PMID:3799593 PMID:3821796 PMID:3828533 PMID:3840039 PMID:3859465 PMID:3942130 PMID:3955238 PMID:3957690 PMID:4018033 PMID:4078867 PMID:4086306 PMID:4129558 PMID:4232783 PMID:4351905 PMID:4361439 PMID:4413625 PMID:4841979 PMID:4991321 PMID:4994348 PMID:5050915 PMID:5129589 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5672850 PMID:5710451 PMID:5791015 PMID:5851873 PMID:5856115 PMID:5863839 PMID:5915974 PMID:5996551 PMID:6019668 PMID:6021187 PMID:6033745 PMID:6054484 PMID:6086605 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6248489 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6280138 PMID:6285354 PMID:6292840 PMID:6298782 PMID:6304979 PMID:6308558 PMID:6310991 PMID:6316272 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6469698 PMID:6500990 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585381 PMID:6585831 PMID:6646217 PMID:6664996 PMID:6668188 PMID:6695908 PMID:6714226 PMID:6733281 PMID:6826539 PMID:6852251 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7104238 PMID:7137165 PMID:7151176 PMID:7173395 PMID:7177196 PMID:7204096 PMID:7229029 PMID:7312624 PMID:7338475 PMID:7372598 PMID:7395858 PMID:7507641 PMID:7522523 PMID:7558878 PMID:7599641 PMID:7655036 PMID:7663000 PMID:7668219 PMID:7668221 PMID:7683931 PMID:7713749 PMID:7755625 PMID:7794779 PMID:7795641 PMID:7819068 PMID:7852087 PMID:7908281 PMID:7909640 PMID:7929232 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8112743 PMID:8161774 PMID:8172199 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8438884 PMID:8462981 PMID:8477263 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8811316 PMID:8839873 PMID:8874232 PMID:8917506 PMID:8978308 PMID:8980256 PMID:9028827 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140717 PMID:9140720 PMID:9160698 PMID:9163586 PMID:9223924 PMID:9225979 PMID:9234571 PMID:9340427 PMID:9342003 PMID:9401495 PMID:9427726 PMID:9450794 PMID:9490703 PMID:9495372 PMID:9556665 PMID:9560205 PMID:9653159 PMID:9830011 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9875660 PMID:9949622 PMID:10081986 PMID:10203101 PMID:10335989 PMID:10367791 PMID:10520021 PMID:10583251 PMID:10602954 PMID:10606872 PMID:10612821 PMID:10815781 PMID:10861818 PMID:11001883 PMID:11179419 PMID:11300348 PMID:11425418 PMID:11545326 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11791878 PMID:11830454 PMID:11857738 PMID:11857746 PMID:11880644 PMID:11939510 PMID:11943067 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12149194 PMID:12172041 PMID:12210807 PMID:12324499 PMID:12368169 PMID:12383672 PMID:12403491 PMID:12488606 PMID:12709369 PMID:12764548 PMID:12850492 PMID:12955718 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13509426 PMID:13590135 PMID:13618691 PMID:13634986 PMID:13685866 PMID:13716853 PMID:13852872 PMID:13872094 PMID:13897827 PMID:13911805 PMID:14081243 PMID:14160125 PMID:14282052 PMID:14343445 PMID:14405428 PMID:14452533 PMID:14492555 PMID:14555318 PMID:14576320 PMID:14613965 PMID:14649318 PMID:14715623 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15257926 PMID:15278762 PMID:15315794 PMID:15352994 PMID:15395398 PMID:15470211 PMID:15481884 PMID:15481885 PMID:15481886 PMID:15481893 PMID:15481896 PMID:15654898 PMID:15658184 PMID:15697092 PMID:15761692 PMID:15768552 PMID:15929117 PMID:15933066 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16470532 PMID:16540414 PMID:16540415 PMID:16732578 PMID:16750922 PMID:16821247 PMID:17008283 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486493 PMID:17486505 PMID:17565724 PMID:17655700 PMID:17774955 PMID:17932132 PMID:17949282 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18056002 PMID:18076350 PMID:18081706 PMID:18096416 PMID:18105244 PMID:18192399 PMID:18266208 PMID:18294253 PMID:18339318 PMID:18403562 PMID:18495504 PMID:18523401 PMID:18568278 PMID:18603555 PMID:18619001 PMID:18654889 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19103851 PMID:19205970 PMID:19205975 PMID:19254853 PMID:19372376 PMID:19429541 PMID:19440680 PMID:19460936 PMID:19631632 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19843386 PMID:19958184 PMID:19958185 PMID:19960060 PMID:20035706 PMID:20110664 PMID:20113284 PMID:20132300 PMID:20230396 PMID:20233970 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20324533 PMID:20353354 PMID:20395516 PMID:20406103 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20524821 PMID:20642331 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20854126 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21194265 PMID:21228398 PMID:21232998 PMID:21250876 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21423179 PMID:21509314 PMID:21529713 PMID:21599435 PMID:21704277 PMID:21732929 PMID:21797702 PMID:21797703 PMID:21931510 PMID:22010933 PMID:22028795 PMID:22074124 PMID:22075726 PMID:22110956 PMID:22122796 PMID:22145566 PMID:22180324 PMID:22188014 PMID:22200002 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22563936 PMID:22625666 PMID:22690826 PMID:22738642 PMID:22851993 PMID:22975760 PMID:23001606 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23383304 PMID:23425204 PMID:23457306 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23651435 PMID:23729725 PMID:23806067 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24080465 PMID:24086942 PMID:24099628 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24265529 PMID:24368026 PMID:24369358 PMID:24401016 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24719849 PMID:24744675 PMID:24754789 PMID:24814631 PMID:24857915 PMID:24880717 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25130136 PMID:25135424 PMID:25155404 PMID:25244406 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25412720 PMID:25480500 PMID:25525159 PMID:25525381 PMID:25572186 PMID:25572187 PMID:25617386 PMID:25666204 PMID:25669128 PMID:25677748 PMID:25741868 PMID:25754248 PMID:25818823 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25910213 PMID:25976460 PMID:26029792 PMID:26041423 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26351951 PMID:26372199 PMID:26372288 PMID:26418075 PMID:26436569 PMID:26467025 PMID:26524961 PMID:26554253 PMID:26554862 PMID:26715484 PMID:26877226 PMID:26948378 PMID:26956563 PMID:27032675 PMID:27117567 PMID:27117572 PMID:27207683 PMID:27251090 PMID:27258795 PMID:27263053 PMID:27264598 PMID:27408413 PMID:27427187 PMID:27535164 PMID:27690257 PMID:27718361 PMID:27756326 PMID:27765567 PMID:27821015 PMID:27823958 PMID:27828729 PMID:27829298 PMID:28125089 PMID:28276871 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28802248 PMID:28865746 PMID:29157184 PMID:29251008 PMID:29464999 PMID:29484903 PMID:29695942 PMID:29893155 PMID:30173596 PMID:30626242 PMID:30843739 PMID:31106603 PMID:31164695 PMID:31240559 PMID:31268351 PMID:31395865 PMID:31553106 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by term: Cd59 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612300
OMIM
ClinVar
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
congenital dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by OMIM:224120
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar
CTD
PMID:16098079 RGD:11081155 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
G Diaph3 diaphanous-related formin 3 ISS MouseDO NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Klf1 Kruppel like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Man2a1 mannosidase, alpha, class 2A, member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 9:112,293,388...112,451,677
Ensembl chr 9:112,293,388...112,451,677
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia
CTD
ClinVar
PMID:19561605 PMID:24033266 PMID:25741868 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 PMID:16754775 PMID:18575862 PMID:20301759 PMID:22407294 PMID:23065504 PMID:25741868 PMID:25741869 PMID:27827297 PMID:28132690 PMID:28492532 PMID:29901818 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdan1 codanin 1 ISO 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:25741868 PMID:28492532, PMID:12434312, PMID:15543010, PMID:29031773, PMID:16754775 RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 3:112,660,839...112,676,596
Ensembl chr 3:112,663,383...112,676,556
JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdin1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib OMIM
ClinVar
PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:29885034 PMID:31191338 NCBI chr 3:107,142,734...107,347,381
Ensembl chr 3:107,142,762...107,348,650
JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II
ClinVar Annotator: match by term: CDA II
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:19561605 PMID:19621418 PMID:20015893 PMID:20941788 PMID:21252497 PMID:21850656 PMID:22208203 PMID:22428539 PMID:23453696 PMID:25044164 PMID:25741868 PMID:26522472 PMID:27471141 PMID:28492532 PMID:29031773 PMID:29901818 PMID:32581362 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
congenital dyserythropoietic anemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV ClinVar
OMIM
PMID:1659863 PMID:21055716 PMID:23125034 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO Severe GPI deficiency with neurologic deficits RGD PMID:8499925, PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar PMID:3839771 PMID:5713642 PMID:6877904 PMID:7852083 PMID:26467025, PMID:1520632 RGD:1600886 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:99,612,993...99,655,753
Ensembl chr 6:99,625,306...99,655,362
JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 5:153,197,416...153,232,009
Ensembl chr 5:153,197,459...153,232,687
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:missense mutations:cds:multiple (human) RGD PMID:16227998, PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple
RGD PMID:7451647, PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISS OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 MouseDO NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human)
CTD PMID:4125296 PMID:10666231, PMID:1999409, PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO
ISS
OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
MouseDO PMID:17041899, PMID:8417789, PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Hk1 hexokinase 1 ISO DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
RGD PMID:7655856, PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human)
RGD PMID:7949104, PMID:11054094, PMID:8161798, PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Xerocytosis hereditary
CTD
ClinVar
PMID:25741868 NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Xerocytosis hereditary ClinVar PMID:16898969 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:28716860 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:28716860 PMID:29576450 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 ClinVar
OMIM
PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:26148990 PMID:26178367 PMID:26198474 NCBI chr 1:81,227,855...81,245,986
Ensembl chr 1:81,230,612...81,245,996
JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:49057 PMID:81926 PMID:88735 PMID:750553 PMID:909565 PMID:1177278 PMID:1186896 PMID:1244906 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1463768 PMID:1483699 PMID:1610915 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1967205 PMID:1986365 PMID:2004023 PMID:2079437 PMID:2200760 PMID:2296310 PMID:2298457 PMID:2307460 PMID:2446680 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2713503 PMID:2867271 PMID:2887538 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2895770 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3048433 PMID:3170235 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3557993 PMID:3557998 PMID:3623977 PMID:3690667 PMID:3752087 PMID:3821796 PMID:3957690 PMID:4078867 PMID:4232783 PMID:4991321 PMID:5050915 PMID:5672850 PMID:6019668 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6322284 PMID:6434492 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6695908 PMID:6714226 PMID:6826539 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7338475 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7993409 PMID:8091935 PMID:8095930 PMID:8199597 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140717 PMID:9140720 PMID:9401495 PMID:9490703 PMID:9845707 PMID:9859938 PMID:10335989 PMID:10602954 PMID:10612821 PMID:11300348 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144056 PMID:12144057 PMID:12383672 PMID:12403491 PMID:12709369 PMID:12764548 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13590135 PMID:13852872 PMID:13872094 PMID:14160125 PMID:14576320 PMID:15108284 PMID:15181845 PMID:15395398 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16370495 PMID:16470532 PMID:16540414 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17932132 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19429541 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19958184 PMID:19958185 PMID:20110664 PMID:20132300 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21194265 PMID:21228398 PMID:21302591 PMID:21389146 PMID:21417574 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22188014 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24055728 PMID:24099628 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24401016 PMID:24493127 PMID:24616059 PMID:24814631 PMID:24857915 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25332589 PMID:25480500 PMID:25525159 PMID:25572186 PMID:25666204 PMID:25741868 PMID:25818823 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26372199 PMID:26436569 PMID:26467025 PMID:27032675 PMID:27207683 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:27823958 PMID:28356267 PMID:28366028 PMID:28379995 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:28802248 PMID:28865746 PMID:29484903 PMID:29695942 PMID:30626242 PMID:31268351 PMID:31553106 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1
ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:11939506 PMID:12402333 PMID:15921167 PMID:16434382 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
G Hbg1 hemoglobin subunit gamma 1 ISO ClinVar Annotator: match by term: Sardinian hpfh
ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in
ClinVar Annotator: match by OMIM:141749
OMIM
ClinVar
PMID:811241 PMID:1373683 PMID:1374633 PMID:1379347 PMID:1487421 PMID:1698280 PMID:1704803 PMID:1990287 PMID:2224140 PMID:2276623 PMID:2417646 PMID:2423160 PMID:2430647 PMID:2441598 PMID:2451123 PMID:2452784 PMID:2469505 PMID:3033668 PMID:3181130 PMID:3377986 PMID:3401591 PMID:9703422 NCBI chr 1:168,992,841...168,994,219
Ensembl chr 1:168,992,722...168,994,253
JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-thalassemia
ClinVar Annotator: match by term: Delta-zero-thalassemia, knossos type
ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 PMID:2018846 PMID:3401592 PMID:3676110 PMID:8118467 PMID:8330984 PMID:8364213 PMID:11939506 PMID:12402333 PMID:16434382 PMID:18221842 PMID:20678137 PMID:23215833 PMID:23806011 PMID:24601842 PMID:24985928 PMID:27387985 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
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 chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:9207478 PMID:9312167 PMID:9854053 PMID:10926824 PMID:10942416 PMID:12087557 PMID:12938018 PMID:15211439 PMID:22126643 PMID:25741868 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
Elliptocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO ClinVar Annotator: match by term: Elliptocytosis 1
ClinVar Annotator: match by term: PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
ClinVar Annotator: match by OMIM:611804
OMIM
ClinVar
PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 PMID:3722387 PMID:3965051 PMID:6894932 PMID:7255153 PMID:7627190 PMID:8423235 PMID:25741868 PMID:28492532 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
ClinVar Annotator: match by OMIM:130600
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1845156 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2384601 PMID:2567189 PMID:2568861 PMID:2794061 PMID:2895677 PMID:3597773 PMID:3708157 PMID:3922449 PMID:4077050 PMID:7074218 PMID:8081008 PMID:8434258 PMID:8435324 PMID:8444470 PMID:8490186 PMID:8857939 PMID:15071791 PMID:16150946 PMID:18218854 PMID:18783249 PMID:19593814 PMID:21212007 PMID:23241237 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28492532 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Elliptocytosis 3
ClinVar Annotator: match by term: Spectrin providence
ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
ClinVar Annotator: match by term: Spectrin rouen
ClinVar
OMIM
PMID:1391962 PMID:2056132 PMID:7883966 PMID:8844207 PMID:9075575 PMID:9163587 PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:9536098 PMID:17576681 PMID:25414442 PMID:25640679 PMID:28492532 PMID:30533531 NCBI chr 9:50,664,048...50,744,803
NCBI chr 9:50,578,868...50,628,943
Ensembl chr 9:50,581,234...50,744,803
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by 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 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency
ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: G6PD AURES
ClinVar Annotator: match by term: G6PD A-
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD MALAGA
CTD
ClinVar
OMIM
PMID:5448 PMID:16832 PMID:848857 PMID:1303173 PMID:1303182 PMID:1536798 PMID:1551674 PMID:1562739 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:1999409 PMID:2255919 PMID:2263506 PMID:2321910 PMID:2503817 PMID:2572288 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3338798 PMID:3393536 PMID:3446582 PMID:3565372 PMID:4154774 PMID:4283789 PMID:4359638 PMID:4388132 PMID:4435794 PMID:4837298 PMID:4974311 PMID:5305539 PMID:5369703 PMID:5485383 PMID:5673160 PMID:5770172 PMID:6015571 PMID:6344088 PMID:6698555 PMID:6714978 PMID:6714986 PMID:7129446 PMID:7160841 PMID:7203486 PMID:7327562 PMID:7390473 PMID:7789945 PMID:7806085 PMID:7825590 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8241497 PMID:8364584 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8807322 PMID:8860013 PMID:8956035 PMID:9192788 PMID:9299858 PMID:9342374 PMID:9589612 PMID:9674740 PMID:9858856 PMID:10221015 PMID:10502785 PMID:10643148 PMID:10666231 PMID:10734064 PMID:10782016 PMID:11024211 PMID:11112389 PMID:11243133 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11601226 PMID:11793482 PMID:11852882 PMID:12028056 PMID:12064920 PMID:12130518 PMID:12215013 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:12850494 PMID:14278484 PMID:14505231 PMID:15183620 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15502081 PMID:15766741 PMID:15906717 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16329560 PMID:16356170 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:17233850 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18043863 PMID:18046504 PMID:18177777 PMID:18270558 PMID:18329300 PMID:19112496 PMID:19422023 PMID:19589177 PMID:19594365 PMID:19632868 PMID:19690618 PMID:20007901 PMID:20085579 PMID:20203002 PMID:20236109 PMID:20582980 PMID:20602793 PMID:20621077 PMID:21153663 PMID:21302115 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22165289 PMID:22171972 PMID:22237549 PMID:22293322 PMID:22906047 PMID:22906837 PMID:22963789 PMID:22963798 PMID:22992668 PMID:23006493 PMID:23144702 PMID:23365477 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24101478 PMID:24460025 PMID:24505519 PMID:24551785 PMID:24586352 PMID:25141282 PMID:25201310 PMID:25326637 PMID:25440321 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26829728 PMID:27040960 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27519946 PMID:27535533 PMID:27880809 PMID:27980749 PMID:28195434 PMID:28492532 PMID:29072585 PMID:29339739 PMID:30045279 PMID:30097005 PMID:30315739 PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 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:25741868 PMID:28492532 PMID:29339739 PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by synonym: Hemolytic anemia due to G6PD deficiency
ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: G6PD WALTER REED
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5448 PMID:16832 PMID:472761 PMID:848857 PMID:1303173 PMID:1303182 PMID:1536798 PMID:1551674 PMID:1562739 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1953767 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:7327562 PMID:7390473 PMID:7789945 PMID:7806085 PMID:7825590 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8364584 PMID:8447319 PMID:8471773 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8807322 PMID:8860013 PMID:8956035 PMID:9192788 PMID:9299858 PMID:9342374 PMID:9410474 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:12064920 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:15766741 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:17233850 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:24551785 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:27980749 PMID:28195434 PMID:28492532 PMID:29072585 PMID:29339739 PMID:30045279 PMID:30097005 PMID:30315739 PMID:32860008 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency
ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency
ClinVar PMID:8471773 PMID:10502785 PMID:11601226 PMID:16329560 PMID:25741868 PMID:28492532 PMID:29339739 PMID:30315739 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human)
RGD PMID:15718915, PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
glutamate-cysteine ligase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
ClinVar Annotator: match by OMIM:230450
OMIM
ClinVar
PMID:10515893 PMID:25741868 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx1 glutathione peroxidase 1 ISO OMIM NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
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 chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28166811 PMID:28492532, PMID:21327084 RGD:9588626 NCBI chr13:100,431,390...100,450,209 JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heinz body anemias
ClinVar Annotator: match by OMIM:140700
OMIM
ClinVar
CTD
PMID:974034 PMID:2833478 PMID:4724958 PMID:5639009 PMID:5969816 PMID:6199285 PMID:6935689 PMID:7558871 PMID:7803274 PMID:8178806 PMID:25741868 PMID:26467025 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO OMIM NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:49057 PMID:81926 PMID:88735 PMID:186485 PMID:711920 PMID:721609 PMID:909565 PMID:1164567 PMID:1173714 PMID:1301203 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1463768 PMID:1483699 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1967205 PMID:1986365 PMID:2004023 PMID:2005117 PMID:2200760 PMID:2296310 PMID:2298457 PMID:2446680 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2599881 PMID:2713503 PMID:2752127 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:3048433 PMID:3260032 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3557999 PMID:3690667 PMID:3752087 PMID:3768534 PMID:3781865 PMID:3821796 PMID:3937827 PMID:4232783 PMID:4281476 PMID:4407364 PMID:4514958 PMID:4525423 PMID:4808645 PMID:4942314 PMID:5059650 PMID:5079107 PMID:5420592 PMID:5698750 PMID:5785231 PMID:5856115 PMID:5869485 PMID:5881530 PMID:6029950 PMID:6050213 PMID:6067323 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6457059 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6714226 PMID:6859036 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7357091 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7860732 PMID:7864023 PMID:7993409 PMID:8095930 PMID:8199597 PMID:8226093 PMID:8330981 PMID:8373896 PMID:8462981 PMID:8602996 PMID:8619407 PMID:8704193 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9401495 PMID:9490703 PMID:9859938 PMID:10335989 PMID:10602954 PMID:10612821 PMID:10975446 PMID:11545326 PMID:11559932 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939506 PMID:11939510 PMID:12124399 PMID:12144057 PMID:12764548 PMID:13066514 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13852872 PMID:14198723 PMID:14576320 PMID:15108284 PMID:15395398 PMID:15654898 PMID:16001361 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17287491 PMID:17331080 PMID:17365006 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19061217 PMID:19254853 PMID:19429541 PMID:19758965 PMID:19958185 PMID:20132300 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20309827 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20642331 PMID:20704537 PMID:20861612 PMID:20954261 PMID:21119755 PMID:21131035 PMID:21228398 PMID:21389146 PMID:21417574 PMID:21523319 PMID:21529713 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22625666 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:23647352 PMID:23729725 PMID:24033266 PMID:24493127 PMID:24857915 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25155404 PMID:25332589 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26372199 PMID:26467025 PMID:27207683 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28356267 PMID:28366028 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:29695942 PMID:31714438 PMID:32581362 PMID:32860008, PMID:2599881 RGD:1600889 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by OMIM:614034 OMIM
ClinVar
PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789 PMID:2239966 PMID:2412200 PMID:2888754 PMID:7137165 PMID:7229029 PMID:8201467 PMID:9556665 PMID:11001883 PMID:11713529 PMID:13108995 PMID:13115700 PMID:13618691 PMID:13685866 PMID:14405428 PMID:14492555 PMID:14613965 PMID:14808148 PMID:15000665 PMID:15973412 PMID:16175509 PMID:17774955 PMID:18048408 PMID:19061217 PMID:20301551 PMID:20305663 PMID:22075726 PMID:23297836 PMID:25741868 PMID:26372199 PMID:27117572 PMID:28492532, PMID:2239966 RGD:1600890 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
ClinVar Annotator: match by term: Hemoglobin D disease
ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 PMID:2887538 PMID:2895770 PMID:3557993 PMID:3557998 PMID:3838975 PMID:4078867 PMID:4991321 PMID:5050915 PMID:5672850 PMID:6322284 PMID:7338475 PMID:8095930 PMID:9140717 PMID:12403491 PMID:12709369 PMID:13590135 PMID:13872094 PMID:14160125 PMID:16370495 PMID:16540414 PMID:19958184 PMID:20110664 PMID:20301551 PMID:20437613 PMID:21194265 PMID:22028795 PMID:22975760 PMID:24123366 PMID:24245819 PMID:24616059 PMID:24814631 PMID:25087612 PMID:25666204 PMID:25741868 PMID:25818823 PMID:26467025 PMID:28492532 PMID:30626242 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:700140 PMID:893136 PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 PMID:6166632 PMID:6198908 PMID:6275383 PMID:6280057 PMID:6859036 PMID:7177196 PMID:7395858 PMID:8839873 PMID:9653159 PMID:11425418 PMID:12149194 PMID:12850492 PMID:13716853 PMID:14734204 PMID:15114532 PMID:15470211 PMID:15481886 PMID:16114182 PMID:16750922 PMID:17278112 PMID:18024613 PMID:18568278 PMID:19440680 PMID:19841268 PMID:20301599 PMID:20492708 PMID:21732929 PMID:22028795 PMID:22260787 PMID:24368026 PMID:24581976 PMID:25370867 PMID:25741868 PMID:26554862 PMID:28492532 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar
PMID:8237999 PMID:9029003 PMID:10569720 PMID:19636270 PMID:20147853 PMID:25342395 PMID:26467025 PMID:27173219 PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO OMIM NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
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 PMID:5856115 PMID:5996551 PMID:6248489 PMID:7372598 PMID:7663000 PMID:7713749 PMID:7755625 PMID:7929232 PMID:9830011 PMID:13509426 PMID:13634986 PMID:13897827 PMID:13911805 PMID:14343445 PMID:14452533 PMID:15929117 PMID:18105244 PMID:19727720 PMID:20324533 PMID:24744675 PMID:27264598 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN 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 PMID:4986187 PMID:5288820 PMID:5452727 PMID:8237999 PMID:9029003 PMID:10569720 PMID:11558897 PMID:12403494 PMID:13500096 PMID:13536534 PMID:13863929 PMID:15481890 PMID:16590776 PMID:19636270 PMID:20147853 PMID:25342395 PMID:26467025 PMID:27173219 PMID:29749692 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN ICARIA
ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID
ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY
ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE
ClinVar Annotator: match by term: HEMOGLOBIN SINAI
ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES
ClinVar Annotator: match by term: Hemoglobin Val de Marne
ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO
ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK
ClinVar Annotator: match by term: Abnormal hemoglobin
ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 PMID:2079431 PMID:2298455 PMID:2372512 PMID:2752146 PMID:3384700 PMID:4422784 PMID:4944483 PMID:5587575 PMID:5713624 PMID:5780195 PMID:5794113 PMID:6725554 PMID:7096113 PMID:7110343 PMID:7295286 PMID:7803274 PMID:8195006 PMID:8294199 PMID:8555062 PMID:8602995 PMID:8811313 PMID:9057661 PMID:9255612 PMID:9629496 PMID:10722113 PMID:11570724 PMID:12393486 PMID:12603094 PMID:13748254 PMID:13968068 PMID:15481888 PMID:15813858 PMID:18691171 PMID:20507641 PMID:21637442 PMID:26365411 PMID:26467025 PMID:26523940 PMID:26635043 PMID:28492532 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
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 PMID:747178 PMID:891976 PMID:893132 PMID:1002699 PMID:1117598 PMID:1158862 PMID:1244915 PMID:1374896 PMID:1384315 PMID:1428943 PMID:1463768 PMID:1520612 PMID:1536956 PMID:1634358 PMID:1634360 PMID:1686262 PMID:1705411 PMID:1769663 PMID:1777603 PMID:1787097 PMID:1814858 PMID:1850955 PMID:1856830 PMID:1873227 PMID:1951318 PMID:1954392 PMID:1974422 PMID:1986379 PMID:2014803 PMID:2018842 PMID:2197725 PMID:2283301 PMID:2291577 PMID:2298920 PMID:2375910 PMID:2384310 PMID:2399911 PMID:2458145 PMID:2467892 PMID:2599881 PMID:2703367 PMID:2737909 PMID:2752127 PMID:2901867 PMID:3006832 PMID:3024968 PMID:3114175 PMID:3391614 PMID:3403716 PMID:3457470 PMID:3557996 PMID:3583764 PMID:3588028 PMID:3756101 PMID:3768534 PMID:3780671 PMID:3942130 PMID:3955238 PMID:4514958 PMID:4942314 PMID:4999133 PMID:5031790 PMID:5059650 PMID:5079107 PMID:5120550 PMID:5124025 PMID:5577462 PMID:5684629 PMID:5773089 PMID:5782115 PMID:5791730 PMID:5856115 PMID:5881530 PMID:5919752 PMID:6029950 PMID:6030043 PMID:6038175 PMID:6050213 PMID:6067323 PMID:6086605 PMID:6249934 PMID:6469698 PMID:6526653 PMID:6646217 PMID:6664996 PMID:6668188 PMID:6714226 PMID:6733281 PMID:6874374 PMID:6879181 PMID:7068436 PMID:7104238 PMID:7158624 PMID:7173395 PMID:7295768 PMID:7353956 PMID:7390864 PMID:7407240 PMID:7437334 PMID:7510147 PMID:7530406 PMID:7558878 PMID:7632967 PMID:7693620 PMID:7852087 PMID:7852088 PMID:7860732 PMID:7864023 PMID:7928379 PMID:8112743 PMID:8225319 PMID:8226093 PMID:8226094 PMID:8330980 PMID:8435318 PMID:8619407 PMID:8638609 PMID:8701949 PMID:8718703 PMID:9028819 PMID:9101280 PMID:9101288 PMID:9140720 PMID:9163586 PMID:9223924 PMID:9340427 PMID:9401495 PMID:9495372 PMID:9625056 PMID:9792288 PMID:9859935 PMID:10081984 PMID:10490144 PMID:10770934 PMID:10815781 PMID:10840054 PMID:11532628 PMID:11722417 PMID:11791873 PMID:11857738 PMID:11857746 PMID:12368169 PMID:12403232 PMID:12403498 PMID:12709369 PMID:12752111 PMID:12779270 PMID:12779277 PMID:12955718 PMID:13911808 PMID:14197371 PMID:14198723 PMID:14734204 PMID:15008262 PMID:15108284 PMID:15315794 PMID:15481885 PMID:15481896 PMID:15658193 PMID:15761692 PMID:16282896 PMID:16466947 PMID:16732578 PMID:16987801 PMID:17007829 PMID:17008283 PMID:17606453 PMID:17949282 PMID:17994378 PMID:18096416 PMID:18294253 PMID:18339318 PMID:18432506 PMID:18498386 PMID:18654889 PMID:18954999 PMID:18976160 PMID:19205970 PMID:19254853 PMID:19429541 PMID:19437135 PMID:19460936 PMID:19486366 PMID:19631632 PMID:20113284 PMID:20309827 PMID:20395516 PMID:20437613 PMID:20524821 PMID:20704537 PMID:21119755 PMID:21232998 PMID:21389146 PMID:21423179 PMID:21523319 PMID:21599435 PMID:21797703 PMID:22010933 PMID:22074124 PMID:22180324 PMID:22239493 PMID:22392582 PMID:22675570 PMID:22975760 PMID:23321370 PMID:23346429 PMID:23383304 PMID:23491071 PMID:23510507 PMID:23525874 PMID:23590330 PMID:24055728 PMID:24099628 PMID:24200101 PMID:24265529 PMID:24450243 PMID:24719849 PMID:24828949 PMID:24880717 PMID:25000193 PMID:25087612 PMID:25089872 PMID:25332589 PMID:25408857 PMID:25412720 PMID:25741868 PMID:25905082 PMID:26076395 PMID:26076396 PMID:26079343 PMID:26372288 PMID:26418075 PMID:26467025 PMID:26522187 PMID:26635043 PMID:26790389 PMID:26901597 PMID:26948378 PMID:26956563 PMID:27032675 PMID:27117567 PMID:27207683 PMID:27263053 PMID:27756326 PMID:27765567 PMID:27821015 PMID:27828729 PMID:28125089 PMID:28143837 PMID:28366028 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28603845 PMID:28671035 PMID:29464999 PMID:31240559 PMID:31714438 PMID:32986258, PMID:24930900 RGD:10449038 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobinopathy ClinVar PMID:7510147 PMID:15315794 PMID:23491071 NCBI chr 1:168,945,531...168,953,023
Ensembl chr 1:168,945,449...168,965,566
JBrowse link
hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IDA RGD PMID:11952820 RGD:704364 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Ak1 adenylate kinase 1 ISO
ISS
OMIM:266120 | OMIM:612631 MouseDO PMID:10233365 RGD:1300279 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:15982355 RGD:11040945 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:2502894 PMID:4794122 PMID:8562390 PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:10515893, PMID:10733484 RGD:11049537 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO DNA:polymorphism:cds:p.G368R(human)
ClinVar Annotator: match by term: Hemolytic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8822954 PMID:32581362, PMID:22930244 RGD:11051847 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
G Gsr glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK
ClinVar Annotator: match by term: 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 PMID:3781864 PMID:5096522 PMID:5133275 PMID:6578506 PMID:6849326 PMID:6859031 PMID:7384813 PMID:7852089 PMID:9629500 PMID:9859934 PMID:10335981 PMID:13716725 PMID:13726693 PMID:13895148 PMID:14314237 PMID:19429541 PMID:24055728 PMID:26467025 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Itpa inosine triphosphatase treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: therapeutic
associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human)
CTD PMID:20547162, PMID:21274861, PMID:23933495 RGD:10766472, RGD:10766479 NCBI chr 3:123,209,611...123,221,266
Ensembl chr 3:123,209,608...123,221,269
JBrowse link
G Nt5c3a 5'-nucleotidase, cytosolic IIIA ISS OMIM:266120 | OMIM:612631 MouseDO NCBI chr 4:87,238,325...87,281,234
Ensembl chr 4:87,237,949...87,281,157
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:77,263,399...77,279,373
Ensembl chr  X:77,263,359...77,279,367
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:32581362 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
G Rhag Rh-associated glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:2146504 PMID:2196932 PMID:2527366 PMID:7812009 PMID:8206915 PMID:8343110 PMID:8471774 PMID:8608262 PMID:8704215 PMID:11155072 PMID:16227998 PMID:19229254 PMID:21039340 PMID:23255290 PMID:24033266 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia
CTD
ClinVar
PMID:9005995 PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
Ensembl chr 9:157,328,379...157,331,905
JBrowse link
Hemolytic Anemia due to Adenylate Kinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Adenylate kinase deficiency, hemolytic anemia due to
ClinVar Annotator: match by OMIM:612631
OMIM
ClinVar
PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 PMID:24033266 PMID:28492532 NCBI chr 3:11,652,143...11,659,135 JBrowse link
Hemolytic Anemia due to Glutathione Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO ClinVar Annotator: match by term: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency
ClinVar
OMIM
PMID:435643 PMID:947404 PMID:17185460 PMID:28492532 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
hemolytic anemia due to glutathione synthetase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to OMIM
ClinVar
PMID:5476481 PMID:8896573 PMID:11167850 PMID:15717202 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557
JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd46 CD46 molecule susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
RGD PMID:14615110, PMID:16189652, PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfh complement factor H ISO
ISS
DNA:mutations, polymorphisms:promoter, exon:multiple
OMIM:235400 | OMIM:612922 | OMIM:612923 | OMIM:612924 | OMIM:612925 | OMIM:612926
MouseDO PMID:14583443 RGD:11041164 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F2 coagulation factor II ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632, PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Pla2g7 phospholipase A2 group VII severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Thbd thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hereditary elliptocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb41 erythrocyte membrane protein band 4.1 ISO
ISS
ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases
ClinVar
MouseDO
PMID:17994571 RGD:11252097 NCBI chr 5:150,081,727...150,243,186
Ensembl chr 5:150,084,611...150,167,077
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Ovalocytosis ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD
ClinVar
PMID:1737855 PMID:9312167 PMID:25741868, PMID:7742553 RGD:13208947 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS
DNA:insertion:intron:
ClinVar Annotator: match by term: Ovalocytosis
OMIM:130600 | OMIM:611804
ClinVar Annotator: match by term: Hereditary elliptocytosis
ClinVar
MouseDO
PMID:28492532, PMID:11154235 RGD:11059523 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovalocytosis
ClinVar Annotator: match by term: Hereditary elliptocytosis
CTD
ClinVar
PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
Hereditary Pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis
ClinVar Annotator: match by OMIM:266140
OMIM
ClinVar
PMID:1191563 PMID:1541680 PMID:1638030 PMID:1642244 PMID:1679439 PMID:1845156 PMID:2043465 PMID:2328319 PMID:2346729 PMID:2567189 PMID:2568862 PMID:2794061 PMID:3597773 PMID:3708157 PMID:3785322 PMID:3922449 PMID:4077050 PMID:6236232 PMID:7074218 PMID:8081008 PMID:8370581 PMID:8434258 PMID:8435324 PMID:8444470 PMID:8857939 PMID:9192783 PMID:9746802 PMID:15071791 PMID:16150946 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28492532 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary pyropoikilocytosis ClinVar PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Klf1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
ClinVar
CTD
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:25741868 PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532, PMID:19538529 RGD:11059526 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 PMID:11167760 PMID:12899723 PMID:15071790 PMID:16037067 PMID:17327413 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736 PMID:3654760 PMID:6215583 PMID:7883966 PMID:8102379 PMID:8844207 PMID:9414314 PMID:9714702 PMID:11703334 PMID:19538529 PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:15071791 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28492532 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:2146504 PMID:2196932 PMID:2527366 PMID:7530501 PMID:7812009 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8704215 PMID:9207478 PMID:9312167 PMID:9734643 PMID:9973643 PMID:10745622 PMID:10942416 PMID:11155072 PMID:11380459 PMID:16227998 PMID:19229254 PMID:21039340 PMID:23255290 PMID:24033266 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:10406914 PMID:12176912 PMID:19508687 PMID:25741868 PMID:28492532 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
Hexokinase Deficiency Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia ClinVar PMID:6848140 PMID:7655856 PMID:12393545 PMID:25741868 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:99,886,373...100,072,674
NCBI chr13:101,936,210...101,973,640
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:25741868 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
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 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME ClinVar PMID:9029003 PMID:11722414 NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868 PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G 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:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:30244526 PMID:31680349 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25741868 PMID:26633545 PMID:28492532 PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G 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 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:30737337 PMID:32442335 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin
ClinVar
OMIM
PMID:25741868 PMID:27453576 PMID:28891213 PMID:31474318 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
Lymphatic Malformation 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:27400125 PMID:29905864 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO OMIM NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
ClinVar Annotator: match by OMIM:609628
OMIM
ClinVar
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:17330256 PMID:17576681 PMID:18409191 PMID:20032092 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25741868 PMID:26386126 PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism
CTD PMID:16469290, PMID:11295830 RGD:1599771 NCBI chr 7:124,024,003...124,041,564
Ensembl chr 7:124,023,995...124,041,594
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:20562208 RGD:10755319 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
Methemoglobinemia Type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
ClinVar Annotator: match by OMIM:250790
OMIM
ClinVar
PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO OMIM NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type
ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE
ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
OMIM
ClinVar
PMID:88735 PMID:604314 PMID:933112 PMID:1278400 PMID:1390250 PMID:1398295 PMID:1427786 PMID:1463768 PMID:1483699 PMID:1634236 PMID:1634368 PMID:1734721 PMID:1769663 PMID:1917531 PMID:1967205 PMID:2004023 PMID:2200760 PMID:2298457 PMID:2446680 PMID:2577233 PMID:2713503 PMID:2867271 PMID:2898955 PMID:2903765 PMID:3377987 PMID:3422218 PMID:3462712 PMID:3838975 PMID:4311041 PMID:5285571 PMID:5669922 PMID:5900783 PMID:6162860 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6264391 PMID:6264477 PMID:6270663 PMID:6280057 PMID:6304979 PMID:6309649 PMID:6311728 PMID:6457059 PMID:6583702 PMID:6585831 PMID:6714226 PMID:6896219 PMID:7151176 PMID:7312624 PMID:7522523 PMID:7558878 PMID:7668219 PMID:8095930 PMID:8226097 PMID:8330981 PMID:8373896 PMID:8602996 PMID:8619407 PMID:8917506 PMID:9048934 PMID:9101288 PMID:9140720 PMID:9401495 PMID:9490703 PMID:9494043 PMID:10335989 PMID:10612821 PMID:11559932 PMID:11857746 PMID:11939510 PMID:12144057 PMID:12764548 PMID:13665153 PMID:13897827 PMID:14576320 PMID:15108284 PMID:15654898 PMID:16291734 PMID:16311287 PMID:16470532 PMID:17331080 PMID:17365006 PMID:18294253 PMID:18603555 PMID:19000664 PMID:19254853 PMID:20132300 PMID:20301599 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20704537 PMID:21119755 PMID:21228398 PMID:21389146 PMID:21417574 PMID:21797703 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22975760 PMID:23162295 PMID:23234478 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23590658 PMID:23637309 PMID:24033266 PMID:24857915 PMID:25087612 PMID:25089872 PMID:25155404 PMID:25332589 PMID:25525159 PMID:25572186 PMID:25741868 PMID:25849334 PMID:25856402 PMID:26029792 PMID:26097845 PMID:26193974 PMID:26467025 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:28366028 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28670940 PMID:29695942 PMID:31714438 PMID:32581362 PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar
OMIM
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:29174631 NCBI chr  X:114,129,829...114,233,013
Ensembl chr  X:114,131,898...114,232,939
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:114,367,028...114,379,646
Ensembl chr  X:114,373,907...114,378,622
JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:113,947,355...114,110,064
Ensembl chr  X:113,948,654...114,110,062
JBrowse link
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: NADH methemoglobin reductase deficiency
ClinVar Annotator: match by term: Methemoglobinemia, type I
ClinVar Annotator: match by term: METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary methemoglobinemia
DNA:mutations:exons,3'UTR:
ClinVar Annotator: match by synonym: METHEMOGLOBINEMIA, TYPE II
OMIM
ClinVar
PMID:1400360 PMID:1707593 PMID:1898726 PMID:2107882 PMID:4063522 PMID:7668255 PMID:7718898 PMID:8119939 PMID:8427971 PMID:9266404 PMID:9695975 PMID:10807796 PMID:10874300 PMID:11159544 PMID:11295830 PMID:12393396 PMID:12756024 PMID:15921385 PMID:15953014 PMID:16310381 PMID:16748235 PMID:18318771 PMID:19062529 PMID:21349748 PMID:23866629 PMID:24033266 PMID:25741868 PMID:27879543, PMID:21349748 RGD:11040533 NCBI chr 7:124,024,003...124,041,564
Ensembl chr 7:124,023,995...124,041,594
JBrowse link
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
ClinVar Annotator: match by term: Disorder of glycolysis
ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency
ClinVar Annotator: match by OMIM:613470
OMIM
ClinVar
PMID:4076245 PMID:8499925 PMID:8822954 PMID:9856489 PMID:24033266 PMID:25741868 PMID:32581362 NCBI chr 1:90,063,411...90,091,287
Ensembl chr 1:90,063,411...90,091,287
JBrowse link
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
ClinVar Annotator: match by OMIM:235700
OMIM
ClinVar
PMID:6848140 PMID:7655856 PMID:12393545 PMID:25741868 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: HE, STOMATOCYTIC
ClinVar Annotator: match by term: Ovalocytosis, southeast Asian
DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
OMIM
ClinVar
PMID:1378323 PMID:1737855 PMID:2146504 PMID:7689982 PMID:7919393 PMID:7949112 PMID:8434259 PMID:9312167 PMID:10403343 PMID:14618420 PMID:19229254 PMID:25741868, PMID:1722314 RGD:10450479 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Stomatocytosis I OMIM
ClinVar
PMID:1174702 PMID:2765409 PMID:2917122 PMID:13762977 PMID:15180870 PMID:18931342 PMID:21849667 PMID:22012326 PMID:23406318 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar
PMID:24521109 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD Direct Evidence: marker/mechanism
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by OMIM:300818
OMIM
ClinVar
CTD
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:25741868 PMID:28492532, PMID:12424196 RGD:11087560 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD
ClinVar
PMID:25417052 PMID:25741868 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
ClinVar Annotator: match by OMIM:615399
OMIM
ClinVar
PMID:23733340 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
pyruvate kinase deficiency of red cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar NCBI chr 2:188,458,851...188,471,916
Ensembl chr 2:188,454,853...188,471,988
JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
ClinVar Annotator: match by OMIM:266200
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout
OMIM
ClinVar
PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 PMID:7655861 PMID:7702630 PMID:7706479 PMID:7919353 PMID:7948315 PMID:8161798 PMID:8483951 PMID:9057665 PMID:9389718 PMID:9657767 PMID:9827908 PMID:9886305 PMID:10828047 PMID:11054094 PMID:11328279 PMID:11698298 PMID:11960989 PMID:12393511 PMID:14014643 PMID:14255553 PMID:15491302 PMID:15953013 PMID:16704447 PMID:17574881 PMID:18172691 PMID:18420493 PMID:18759866 PMID:19085939 PMID:19758413 PMID:21815188 PMID:21833022 PMID:23082140 PMID:24033266 PMID:25741868 PMID:26658699 PMID:26728349 PMID:26832193 PMID:27346685 PMID:27871768 PMID:28133914 PMID:28492532, PMID:7579416, PMID:16704447, PMID:19755962 RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link
Rh deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rh-associated glycoprotein ISO ClinVar Annotator: match by term: Rh-null hemolytic anemia, regulator type
ClinVar Annotator: match by term: Rh-null, regulator type
OMIM
ClinVar
PMID:8563755 PMID:9442063 PMID:9454778 PMID:9746795 PMID:9915949 PMID:10467273 PMID:25741868 NCBI chr 9:23,465,190...23,493,081
Ensembl chr 9:23,465,197...23,493,081
JBrowse link
G Rhd Rh blood group, D antigen ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:153,197,416...153,232,009
Ensembl chr 5:153,197,459...153,232,687
JBrowse link
G Rsrp1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 5:153,260,930...153,264,669
Ensembl chr 5:153,260,930...153,264,669
JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A severity
treatment
ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698, PMID:22360576, PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:7554454, PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Cd36 CD36 molecule treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255, PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069, PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G F2 coagulation factor II disease_progression ISO protein:increased expression:plasma: RGD PMID:26286849, PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064, PMID:20846340, PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: R