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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:normocytic anemia
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Accession:DOID:720 term browser browse the term
Definition:An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. (DO)
Synonyms:exact_synonym: Normocytic normochromic anemia
 xref: MONDO:0004139;   NCI:C35142
For additional species annotation, visit the Alliance of Genome Resources.


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acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr21:28,187,535...28,188,991 JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron: 		RGD PMID:14687036 PMID:25263931 RGD:11533931 RGD:11533934 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) 		RGD PMID:22925497 PMID:25130874 RGD:11075233 RGD:11075235 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G HBM hemoglobin subunit mu ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2986746 PMID:3191033 PMID:6158051 PMID:10602170 PMID:11017952 More... NCBI chr 6:40,330,773...40,331,500
Ensembl chr 6:40,330,773...40,332,207 		JBrowse link
G HBQ1 hemoglobin subunit theta 1 ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More...
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: HEMOGLOBIN CHAROLLES | ClinVar Annotator: match by term: HEMOGLOBIN PETAH TIKVA | ClinVar Annotator: match by term: alpha Thalassemia OMIM
ClinVar		 PMID:508945 PMID:538560 PMID:640847 PMID:646867 PMID:949043 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like severity ISO ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: Alpha-thalassemia, zf type | ClinVar Annotator: match by term: alpha Thalassemia
associated with Anemia, Sickle Cell; 		OMIM
ClinVar
RGD		 PMID:13856 PMID:478977 PMID:538560 PMID:620088 PMID:868864 More... RGD:10755568 NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC100855634 hemoglobin subunit zeta-like ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 More... NCBI chr 6:40,342,517...40,343,540 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia 		ClinVar PMID:14973 PMID:81926 PMID:88735 PMID:274732 PMID:893136 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G LUC7L LUC7 like ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type ClinVar PMID:10910890 PMID:12730694 PMID:35190856 NCBI chr 6:40,274,290...40,310,084
Ensembl chr 6:40,273,801...40,309,921 		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 ALPL alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11438998 PMID:12815606 PMID:22397652 PMID:25731960 PMID:25741868 More... NCBI chr 2:77,559,791...77,614,102
Ensembl chr 2:77,559,791...77,614,820 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G ATR ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: ATR-X-related syndrome | ClinVar Annotator: match by term: ATRX-related disorder | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: Alpha-thalassemia/intellectual disability syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome | ClinVar Annotator: match by term: XLMR hypotonic face syndrome OMIM
ClinVar		 PMID:1770528 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 More... NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:60,192,698...60,197,547 JBrowse link
G MAGT1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chr  X:60,122,021...60,186,457
Ensembl chr  X:60,128,571...60,186,507 		JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:60,374,743...60,396,244
Ensembl chr  X:60,374,754...60,423,947 		JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type ClinVar PMID:11791872 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN ClinVar PMID:8237999 PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr21:28,187,535...28,188,991 JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome OMIM
ClinVar		 PMID:3239563 PMID:9326931 PMID:10398237 PMID:10632111 PMID:10995512 More... NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1634361 PMID:2298455 PMID:2468982 PMID:3177365 PMID:4623704 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like 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 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303 		JBrowse link
G B9D2 B9 domain containing 2 severity
susceptibility 		ISO protein:decreased expression: :
DNA:polymorphism: :509C>T(human) 		RGD PMID:24028718 PMID:24362456 RGD:11073601 RGD:11073606 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G CD40LG CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852 		JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity
treatment 		ISO DNA:polymorphism, haplotype RGD PMID:7994040 PMID:12070003 PMID:24979673 RGD:11041757 RGD:11041765 RGD:11041775 NCBI chr12:2,305,307...2,307,711 JBrowse link
G EPHX1 epoxide hydrolase 1 disease_progression
susceptibility 		ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:missense mutation:exon:p.H139R (human) 		RGD PMID:21228718 PMID:26999617 RGD:11252118 RGD:11252120 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma: 		RGD PMID:7577642 PMID:11876982 RGD:11049159 RGD:11049449 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708 		JBrowse link
G GATA2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812 		JBrowse link
G IFNG interferon gamma susceptibility
treatment 		ISO ClinVar Annotator: match by term: Aplastic anemia
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron: 		OMIM
ClinVar
RGD		 PMID:15327519 PMID:18426658 PMID:20953611 PMID:25741868 RGD:10755688 RGD:10755690 RGD:10755710 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: Aplastic anemia, susceptibility to OMIM
ClinVar		 PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More... NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 NCBI chr  X:20,227,808...20,537,893
Ensembl chr  X:20,227,886...20,537,902 		JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Aplastic anemia
ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: Inherited aplastic anemia 		OMIM
ClinVar		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864 		JBrowse link
G RASA3 RAS p21 protein activator 3 ISO OMIM:609135 MouseDO NCBI chr22:61,093,762...61,202,209
Ensembl chr22:61,095,044...61,202,152 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956 		JBrowse link
G SBDS SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: SBDS-related condition ClinVar
OMIM		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 6:1,256,087...1,263,482
Ensembl chr 6:1,256,546...1,263,467 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:16990594 More... NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G THPO thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human) 		RGD PMID:22686250 PMID:24085763 RGD:11073679 RGD:11073680 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:20301779 NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512 		JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G ZCCHC8 zinc finger CCHC-type containing 8 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr26:6,895,873...6,927,262
Ensembl chr26:6,895,904...6,926,484 		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 ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr11:58,102,057...58,116,750
Ensembl chr11:58,102,592...58,109,389 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:92,581,124...92,584,701
Ensembl chr  X:92,581,488...92,582,444 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:1577763 PMID:2249879 PMID:6308626 PMID:8181962 PMID:9616367 More... NCBI chr12:1,363,656...1,399,732
Ensembl chr12:1,363,803...1,399,728 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
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 | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 		ClinVar
OMIM		 PMID:1879662 PMID:1976733 PMID:6103091 PMID:7961791 PMID:9536098 More... NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr27:37,431,745...37,439,858
Ensembl chr27:37,433,792...37,435,246 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar
OMIM		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... NCBI chr12:1,400,143...1,406,267 JBrowse link
G CFH complement factor H ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 		ClinVar
OMIM		 PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More... NCBI chr38:2,878,677...2,956,226 JBrowse link
G CFHR5 complement factor H related 5 ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:16299065 PMID:17000000 PMID:19365580 PMID:24033266 PMID:25741868 More... NCBI chr 7:5,723,819...5,752,881
Ensembl chr 7:5,724,129...5,752,816 		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: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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 		ClinVar
OMIM		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		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, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 ClinVar PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like susceptibility
severity 		ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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 | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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 | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | 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: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr21:28,187,535...28,188,991 JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr15:14,857,236...14,863,211
Ensembl chr15:14,857,231...14,863,113 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9915943 PMID:11317351 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546 		JBrowse link
G PLA2R1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr36:5,696,733...5,793,599
Ensembl chr36:5,698,429...5,794,204 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260 		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 chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248 		JBrowse link
G THBD thrombomodulin no_association
susceptibility
severity 		ISO DNA:SNPs:5' utr, 3' utr:multiple
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome 		RGD
OMIM
ClinVar		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684 RGD:11038691 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G SLC14A1 solute carrier family 14 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr 7:45,378,744...45,409,068
Ensembl chr 7:45,380,239...45,408,829 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:8325343 RGD:10450476 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
G TLR8 toll like receptor 8 ISO ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:25741868 PMID:33512449 PMID:34981838 NCBI chr  X:9,381,159...9,399,938 JBrowse link
G TSLP thymic stromal lymphopoietin ISO OMIM:205700 MouseDO NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696 		JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 | ClinVar Annotator: match by term: HSPA9-related condition OMIM
ClinVar		 PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 More... NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841 		JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive OMIM
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3 OMIM
ClinVar		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841 		JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398 		JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689 		JBrowse link
G APOB apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G APOE apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G BCL11A BCL11 transcription factor A severity
treatment 		ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)
DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human) 		RGD PMID:22258351 PMID:23541515 PMID:25574177 PMID:25751242 RGD:11099969 RGD:11100005 RGD:11100008 RGD:11100011 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CFB complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr12:1,400,143...1,406,267 JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO RGD PMID:12513847 RGD:11041746 NCBI chr12:2,305,307...2,307,711 JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G GATA1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G HAMP hepcidin antimicrobial peptide treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16755567 PMID:17299088 PMID:23905873 RGD:11041616 RGD:11041617 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619 		JBrowse link
G HBS1L HBS1 like translational GTPase ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 1:27,704,375...27,791,376
Ensembl chr 1:27,695,441...27,791,381 		JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human) 		RGD PMID:14703689 PMID:17160266 RGD:10755489 RGD:10755537 NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392 		JBrowse link
G IL1A interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G KLF1 KLF transcription factor 1 ISO OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G LCN2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038 		JBrowse link
G LOC100684060 olfactory receptor 51B4 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr21:28,228,147...28,229,082
Ensembl chr21:28,228,147...28,229,082 		JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: beta Thalassemia ClinVar PMID:1281602 PMID:1581238 PMID:2298455 PMID:2372512 PMID:3024968 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC485255 hemoglobin subunit epsilon-2 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr21:28,193,163...28,194,746 JBrowse link
G LOC609402 hemoglobin subunit beta-like treatment ISO ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia 		OMIM
ClinVar
RGD		 PMID:393 PMID:8114 PMID:14597 PMID:14973 PMID:20942 More... RGD:11353868 NCBI chr21:28,187,535...28,188,991 JBrowse link
G OR51V20 olfactory receptor family 51 subfamily V member 20 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr21:28,137,556...28,138,506 JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TFR2 transferrin receptor 2 ISO mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:16755567 RGD:11062138 NCBI chr 6:9,059,501...9,076,646
Ensembl chr 6:9,060,629...9,076,158 		JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver: 		CTD
RGD		 PMID:16755567 RGD:11062138 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TNF tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 More... NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E 		ClinVar PMID:14973 PMID:27132 PMID:36184 PMID:49057 PMID:81926 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP72 signal recognition particle 72 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr13:48,688,295...48,717,826
Ensembl chr13:48,688,295...48,717,824 		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-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition OMIM
ClinVar		 PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329 		JBrowse link
central conducting lymphatic anomaly 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: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar		 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 More... NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324 		JBrowse link
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY ClinVar PMID:25741868 PMID:35235341 NCBI chr14:54,063,832...54,153,346
Ensembl chr14:54,063,769...54,166,197 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:8,898,536...8,908,057
Ensembl chr 6:8,898,520...8,907,997 		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 term: Congenital dyserythropoietic anemia ClinVar NCBI chr30:9,656,408...9,668,898
Ensembl chr30:9,656,871...9,668,653 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr30:4,129,366...4,356,771
Ensembl chr30:4,129,082...4,341,136 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO MouseDO NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031 		JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr27:10,313,782...10,340,652
Ensembl chr27:10,314,187...10,340,682 		JBrowse link
G KIF23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr30:33,313,029...33,337,663
Ensembl chr30:33,302,709...33,337,422 		JBrowse link
G KLF1 KLF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G MAN2A1 mannosidase alpha class 2A member 1 ISO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 3:2,340,392...2,477,458
Ensembl chr 3:2,330,959...2,488,393 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:19561605 PMID:24033266 PMID:25044164 PMID:25741868 PMID:28492532 NCBI chr24:4,663,043...4,700,949
Ensembl chr24:4,663,302...4,727,920 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr30:40,130,456...40,189,244
Ensembl chr30:40,101,540...40,189,159 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr 5:80,327,059...80,340,380 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:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chr30:9,656,408...9,668,898
Ensembl chr30:9,656,871...9,668,653 		JBrowse link
congenital dyserythropoietic anemia type Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDAN1 codanin 1 ISO ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia OMIM
ClinVar		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chr30:9,656,408...9,668,898
Ensembl chr30:9,656,871...9,668,653 		JBrowse link
congenital dyserythropoietic anemia type Ib term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDIN1 CDAN1 interacting nuclease 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib | ClinVar Annotator: match by term: CDIN1-related condition OMIM
ClinVar		 PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 More... NCBI chr30:4,129,366...4,356,771
Ensembl chr30:4,129,082...4,341,136 		JBrowse link
congenital dyserythropoietic anemia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANF2 BANF family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:5,274,524...5,308,606
Ensembl chr24:5,274,553...5,307,433 		JBrowse link
G DZANK1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:4,727,996...4,805,799
Ensembl chr24:4,730,817...4,888,622 		JBrowse link
G KAT14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:4,933,066...4,968,473
Ensembl chr24:4,933,069...4,968,216 		JBrowse link
G LOC100688040 protein PET117 homolog, mitochondrial ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:4,968,462...4,971,802
Ensembl chr24:4,933,573...4,971,706 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:5,068,147...5,083,941 JBrowse link
G OVOL2 ovo like zinc finger 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:5,020,608...5,050,487
Ensembl chr24:5,020,813...5,050,309 		JBrowse link
G POLR3F RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:4,715,146...4,727,938
Ensembl chr24:4,663,302...4,727,920 		JBrowse link
G RBBP9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:4,704,957...4,712,644
Ensembl chr24:4,704,362...4,710,798 		JBrowse link
G RRBP1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:5,349,415...5,390,673
Ensembl chr24:5,326,952...5,390,672 		JBrowse link
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: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE | ClinVar Annotator: match by term: HEMPAS anemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr24:4,663,043...4,700,949
Ensembl chr24:4,663,302...4,727,920 		JBrowse link
G SNX5 sorting nexin 5 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:5,085,140...5,110,942
Ensembl chr24:5,084,986...5,110,283 		JBrowse link
G ZNF133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr24:4,817,882...4,843,211
Ensembl chr24:4,817,882...4,842,797 		JBrowse link
congenital dyserythropoietic anemia type IIIa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF23 kinesin family member 23 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition OMIM
ClinVar		 PMID:9536098 PMID:13867810 PMID:14886400 PMID:17576681 PMID:23570799 More... NCBI chr30:33,313,029...33,337,663
Ensembl chr30:33,302,709...33,337,422 		JBrowse link
congenital dyserythropoietic anemia type IIIb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RACGAP1 Rac GTPase activating protein 1 ISO ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb | ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive OMIM
ClinVar		 PMID:34818416 PMID:36200420 NCBI chr27:4,689,914...4,718,181
Ensembl chr27:4,689,483...4,727,933 		JBrowse link
congenital dyserythropoietic anemia type IVa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN | ClinVar Annotator: match by term: CDA, TYPE IVa | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV | ClinVar Annotator: match by term: KLF1-related condition OMIM
ClinVar		 PMID:1659863 PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 More... NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
congenital dyserythropoietic anemia type IVb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IVb | ClinVar Annotator: match by term: CDA, TYPE IVb ClinVar
OMIM		 PMID:18487511 PMID:24443441 PMID:25724378 PMID:28361594 PMID:28492532 More... NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr10:46,261,747...46,300,084
Ensembl chr10:46,271,772...46,299,773 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr10:46,300,142...46,319,592
Ensembl chr10:46,300,165...46,319,229 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:5316621 PMID:25741868 PMID:28492532 PMID:29300386 PMID:32641076 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H
Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) 		RGD PMID:8499925 PMID:9856489 RGD:1600631 RGD:1600632 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans RGD PMID:947404 RGD:1600697 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW ClinVar PMID:3839771 PMID:5713642 PMID:6815132 PMID:6877904 PMID:7852083 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:39,112,613...39,155,115
Ensembl chr 8:39,072,389...39,155,173 		JBrowse link
G RHCE Rh blood group CcEe antigens ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 2:74,466,902...74,503,451
Ensembl chr 2:74,466,928...74,503,448 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:8841202 PMID:16227998 RGD:10450505 RGD:10450509 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 PMID:28492532 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,031,906...113,037,418
Ensembl chr 1:113,031,764...113,036,229 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,391,670...112,410,160 JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,576,992...112,579,104 JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BLVRB biliverdin reductase B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073 		JBrowse link
G C1H19orf47 chromosome 1 C19orf47 homolog ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,325,289...113,353,039
Ensembl chr 1:113,322,757...113,343,736 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CCDC97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,648,610...112,659,740
Ensembl chr 1:112,650,467...112,659,650 		JBrowse link
G CCNP cyclin P ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,412,012...113,417,046
Ensembl chr 1:113,415,225...113,416,496 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,411,281...112,414,827
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:111,745,413...111,756,011 JBrowse link
G CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:111,812,571...111,834,985
Ensembl chr 1:111,745,413...111,917,830 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082 		JBrowse link
G CNFN cornifelin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,014,089...112,015,884
Ensembl chr 1:112,014,746...112,015,784 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,056,369...113,075,773
Ensembl chr 1:113,057,141...113,102,074 		JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,932,246...112,938,248
Ensembl chr 1:112,931,985...112,938,350 		JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076 		JBrowse link
G CYP2B6 cytochrome P450 2B11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,973,776...112,986,419
Ensembl chr 1:112,974,847...112,986,123 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,735,586...112,747,534
Ensembl chr 1:112,736,706...112,747,555 		JBrowse link
G DEDD2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,148,146...112,164,473
Ensembl chr 1:112,148,925...112,163,770 		JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,737,662...113,745,936 JBrowse link
G DMAC2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,567,786...112,573,471
Ensembl chr 1:112,567,837...112,573,531 		JBrowse link
G DMRTC2 DMRT like family C2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,434,046...112,439,712
Ensembl chr 1:112,434,485...112,439,088 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,992,779...113,001,836
Ensembl chr 1:112,992,780...113,000,677 		JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077 		JBrowse link
G ERICH4 glutamate rich 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,562,457...112,578,101
Ensembl chr 1:112,562,437...112,564,498 		JBrowse link
G EXOSC5 exosome component 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,599,519...112,609,039
Ensembl chr 1:112,599,568...112,608,941 		JBrowse link
G FBL fibrillarin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,632,899...113,643,805
Ensembl chr 1:113,632,929...113,643,748 		JBrowse link
G FCGBP Fc gamma binding protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,586,795...113,625,932 JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:871527 PMID:3164080 PMID:9536098 PMID:12200364 PMID:14691578 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,270,157...112,321,672
Ensembl chr 1:112,270,424...112,321,672 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,297,079...113,304,399
Ensembl chr 1:113,297,258...113,304,101 		JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,661,955...112,699,112
Ensembl chr 1:112,662,429...112,697,403 		JBrowse link
G IQCG IQ motif containing G ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr33:28,745,089...28,791,744
Ensembl chr33:28,745,316...28,800,119 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,037,833...113,053,877
Ensembl chr 1:113,039,093...113,053,738 		JBrowse link
G LEUTX leucine twenty homeobox ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461 		JBrowse link
G LOC100684414 zinc finger protein 780A-like ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,506,667...113,528,250 JBrowse link
G LOC612523 EP300-interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,712,193...113,713,420 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,439,900...112,445,935
Ensembl chr 1:112,443,993...112,445,932 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,422,239...113,435,979
Ensembl chr 1:113,422,518...113,428,688 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,020,344...112,063,120
Ensembl chr 1:112,021,960...112,024,773 		JBrowse link
G MIA MIA SH3 domain containing ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,012,765...113,016,742 JBrowse link
G NUMBL NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,076,678...113,103,114
Ensembl chr 1:113,057,141...113,102,074 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,078,131...112,080,874
Ensembl chr 1:112,063,074...112,080,873 		JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,165,908...112,252,712
Ensembl chr 1:112,220,511...112,321,672 		JBrowse link
G PRR19 proline rich 19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,074,045...112,076,036
Ensembl chr 1:112,073,031...112,075,316 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,279,940...113,294,042 JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,548,351...113,557,725
Ensembl chr 1:113,548,373...113,557,630 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,003,317...113,011,978
Ensembl chr 1:113,003,318...113,011,947 		JBrowse link
G RABAC1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,351,416...112,354,010
Ensembl chr 1:112,351,388...112,354,045 		JBrowse link
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605 		JBrowse link
G RPL19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 9:23,171,508...23,175,656
Ensembl chr 9:23,171,508...23,175,656 		JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302 		JBrowse link
G RPL35A ribosomal protein L35a ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956 		JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780 		JBrowse link
G RPS16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,795,239...113,798,380
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:9988267 PMID:10590074 PMID:10753603 PMID:12586610 PMID:12750732 More... NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806 		JBrowse link
G RPS7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178 		JBrowse link
G SELENOV selenoprotein V ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,718,244...113,730,599 JBrowse link
G SERTAD1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,270,199...113,273,112
Ensembl chr 1:113,272,051...113,272,764 		JBrowse link
G SERTAD3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,258,274...113,264,013
Ensembl chr 1:113,261,354...113,263,899 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,154,285...113,165,988
Ensembl chr 1:113,154,460...113,165,992 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,018,268...113,030,827
Ensembl chr 1:113,018,304...113,030,734 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,167,251...113,243,071
Ensembl chr 1:113,168,484...113,240,934 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,759,419...113,788,490
Ensembl chr 1:113,759,423...113,788,447 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,749,778...113,758,480
Ensembl chr 1:113,749,994...113,757,930 		JBrowse link
G TMEM145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,063,552...112,072,095
Ensembl chr 1:112,063,551...112,072,244 		JBrowse link
G TMEM91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,610,660...112,615,813 JBrowse link
G TTC9B tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:113,419,556...113,422,057
Ensembl chr 1:113,419,715...113,422,045 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G ZNF526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,141,455...112,148,728
Ensembl chr 1:112,142,061...112,144,184 		JBrowse link
G ZNF574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:112,261,547...112,266,706 JBrowse link
Congenital Methemoglobinemia 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: Hereditary methemoglobinemia ClinVar PMID:10807796 PMID:11159544 PMID:11295830 PMID:12756024 PMID:16310381 More... NCBI chr10:22,829,898...22,848,284
Ensembl chr10:22,819,221...22,848,284 		JBrowse link
G LOC476167 cytochrome b5 type A pseudogene ISO DNA:missense, nonsense mutations:splice junction,cds:multiple
protein:decreased activity:erythrocyte membrane: 		RGD PMID:7451647 PMID:18343696 RGD:11352693 RGD:11352695 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932 		JBrowse link
congenital nonspherocytic hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 ISO DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human) 		RGD
CTD		 PMID:1999409 PMID:4125296 PMID:10666231 PMID:24923766 RGD:10449107 RGD:1599812 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds:
DNA:point_mutation:CDS:1648A>G amino acid K550E 		RGD
MouseDO		 PMID:8417789 PMID:9446754 PMID:17041899 RGD:11051849 RGD:11051955 RGD:1600633 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G HK1 hexokinase 1 ISO DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte
DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human) 		RGD PMID:7655856 PMID:11783948 RGD:11353878 RGD:1601519 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608 NCBI chr21:28,187,535...28,188,991 JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr14:45,076,487...45,132,000
Ensembl chr14:45,077,099...45,131,905 		JBrowse link
G PKLR pyruvate kinase L/R ISO DNA:missense mutations:cds:p.T384M, p.Q421K (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.A468V, p.I314T (human) 		RGD PMID:1536957 PMID:7949104 PMID:8161798 PMID:11054094 RGD:11535979 RGD:11535981 RGD:11535983 RGD:11535987 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
congenital nonspherocytic hemolytic anemia 1 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 term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 OMIM
ClinVar		 PMID:5448 PMID:16832 PMID:736032 PMID:848857 PMID:853376 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562 		JBrowse link
congenital nonspherocytic hemolytic anemia 10 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: GSR-related condition | ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency OMIM
ClinVar		 PMID:435643 PMID:947404 PMID:17185460 PMID:25741868 PMID:28492532 More... NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
congenital nonspherocytic hemolytic anemia 2 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 PMID:25741868 NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595 		JBrowse link
G PKLR pyruvate kinase L/R ISO
IAGP 		ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
Pyruvate kinase deficiency of erythrocyte 		OMIM
ClinVar
OMIA		 PMID:1141034 PMID:1510326 PMID:1536957 PMID:1670447 PMID:1896471 More... NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
congenital nonspherocytic hemolytic anemia 3 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: Hemolytic anemia due to adenylate kinase deficiency OMIM
ClinVar		 PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
congenital nonspherocytic hemolytic anemia 4 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: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: GPI-related condition | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency OMIM
ClinVar		 PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
congenital nonspherocytic hemolytic anemia 5 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: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5 | ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY OMIM
ClinVar		 PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 More... NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
congenital nonspherocytic hemolytic anemia 6 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 without 5-oxoprolinuria OMIM
ClinVar		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:10369661 PMID:10861239 More... NCBI chr24:23,973,807...24,000,281
Ensembl chr24:23,901,045...23,997,286 		JBrowse link
congenital nonspherocytic hemolytic anemia 7 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 ClinVar
OMIM		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5C3A 5'-nucleotidase, cytosolic IIIA ISO ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to OMIM
ClinVar		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr14:45,076,487...45,132,000
Ensembl chr14:45,077,099...45,131,905 		JBrowse link
congenital nonspherocytic hemolytic anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 9 | ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to OMIM
ClinVar		 PMID:3164080 PMID:25741868 PMID:28492532 PMID:35030251 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		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 ClinVar Annotator: match by term: DESICCYTOSIS GARDOS ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701 		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 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH OMIM
ClinVar		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 | ClinVar Annotator: match by term: KCNN4-related condition OMIM
ClinVar		 PMID:652816 PMID:687829 PMID:4851153 PMID:6473461 PMID:11323678 More... NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701 		JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2A2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,269,962...45,358,020
Ensembl chr18:45,253,772...45,358,018 		JBrowse link
G ART1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,208,149...26,216,565
Ensembl chr21:26,208,212...26,215,967 		JBrowse link
G ART5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,203,041...26,214,286
Ensembl chr21:26,203,041...26,206,193 		JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,394,034...46,396,723
Ensembl chr18:46,395,391...46,395,975 		JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,666,489...45,688,950
Ensembl chr18:45,628,970...45,689,494 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,959,743...47,007,521
Ensembl chr18:46,959,743...47,007,460 		JBrowse link
G CD151 CD151 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,195,875...45,200,066
Ensembl chr18:45,196,237...45,200,081 		JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,466,484...46,474,236
Ensembl chr18:46,466,499...46,473,868 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,860,636...46,861,697 JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,782,012...25,783,897 JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,226,860...45,253,425
Ensembl chr18:45,226,865...45,256,750 		JBrowse link
G CHRNA10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,216,862...26,233,226 JBrowse link
G CRACR2B calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,188,527...45,194,077
Ensembl chr18:45,190,250...45,194,038 		JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,010,440...46,019,457
Ensembl chr18:46,010,440...46,019,457 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,711,683...25,733,144
Ensembl chr18:25,711,706...25,733,069 		JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,791,878...45,809,996
Ensembl chr18:45,794,330...45,809,996 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,766,688...25,777,075 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,998,672...46,008,494
Ensembl chr18:45,999,103...46,006,202 		JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,663,814...25,669,420
Ensembl chr18:25,663,814...25,668,768 		JBrowse link
G LOC100855904 mucin-6 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,359,412...45,376,678 JBrowse link
G LOC102153419 proline-rich protein 33-like ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,124,411...46,125,166 JBrowse link
G LOC119864308 small nucleolar RNA SNORA52 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G LOC119864312 small nucleolar RNA SNORA54 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G LOC485221 olfactory receptor 52M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,695,559...26,696,397 JBrowse link
G LOC485255 hemoglobin subunit epsilon-2 ISO ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:1698280 PMID:2432426 PMID:2441598 PMID:2798417 PMID:6205403 More... NCBI chr21:28,193,163...28,194,746 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,087,886...46,127,307
Ensembl chr18:46,087,922...46,127,263 		JBrowse link
G MMP26 matrix metallopeptidase 26 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,416,768...27,429,374
Ensembl chr21:27,423,965...27,428,624 		JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,698,096...45,776,402
Ensembl chr18:45,682,790...45,776,349 		JBrowse link
G MRGPRG MAS related GPR family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:47,134,505...47,138,223
Ensembl chr18:47,134,505...47,138,223 		JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,166,698...46,173,480 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,416,347...45,438,226 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,471,232...45,498,961 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184 		JBrowse link
G NAP1L4 nucleosome assembly protein 1 like 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,910,366...46,946,710
Ensembl chr18:46,911,278...46,945,525 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020 		JBrowse link
G OR51A4 olfactory receptor family 51 subfamily A member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,381,999...27,382,940
Ensembl chr21:27,381,999...27,382,940 		JBrowse link
G OR51A6 olfactory receptor family 51 subfamily A member 6 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,326,402...27,327,337
Ensembl chr21:27,326,435...27,327,337 		JBrowse link
G OR51E1 olfactory receptor family 51 subfamily E member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,022,880...27,027,047 JBrowse link
G OR51E2 olfactory receptor family 51 subfamily E member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,078,888...27,081,746
Ensembl chr21:27,080,476...27,081,438 		JBrowse link
G OR51F1 olfactory receptor family 51 subfamily F member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,108,664...27,126,265
Ensembl chr21:27,108,830...27,109,786 		JBrowse link
G OR51F23 olfactory receptor family 51 subfamily F member 23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,089,071...27,090,339
Ensembl chr21:27,089,139...27,090,068 		JBrowse link
G OR51G1 olfactory receptor family 51 subfamily G member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,369,564...27,370,532 JBrowse link
G OR51G2 olfactory receptor family 51 subfamily G member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,360,385...27,372,543
Ensembl chr21:27,360,385...27,361,326 		JBrowse link
G OR51L1 olfactory receptor family 51 subfamily L member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,435,270...27,436,993
Ensembl chr21:27,435,775...27,436,722 		JBrowse link
G OR51S1 olfactory receptor family 51 subfamily S member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,259,732...27,260,697
Ensembl chr21:27,259,732...27,260,697 		JBrowse link
G OR51T1 olfactory receptor family 51 subfamily T member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,312,777...27,323,411
Ensembl chr21:27,320,585...27,321,568 		JBrowse link
G OR51V20 olfactory receptor family 51 subfamily V member 20 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:28,137,556...28,138,506 JBrowse link
G OR52A1 olfactory receptor family 52 subfamily A member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:28,047,095...28,048,033
Ensembl chr21:28,047,095...28,048,033 		JBrowse link
G OR52A17 olfactory receptor family 52 subfamily A member 17 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G OR52B4 olfactory receptor family 52 subfamily B member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,720,442...26,721,404
Ensembl chr21:26,720,460...26,721,404 		JBrowse link
G OR52E1 olfactory receptor family 52 subfamily E member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,551,919...27,552,860
Ensembl chr21:27,551,919...27,552,860 		JBrowse link
G OR52E2 olfactory receptor family 52 subfamily E member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,539,697...27,540,635
Ensembl chr21:27,539,697...27,540,635 		JBrowse link
G OR52I1 olfactory receptor family 52 subfamily I member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,977,361...26,978,605
Ensembl chr21:26,977,631...26,978,605 		JBrowse link
G OR52J3 olfactory receptor family 52 subfamily J member 3 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,494,740...27,495,678
Ensembl chr21:27,494,740...27,495,678 		JBrowse link
G OR52K1 olfactory receptor family 52 subfamily K member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,866,134...26,867,078
Ensembl chr21:26,866,134...26,867,078 		JBrowse link
G OR52R1 olfactory receptor family 52 subfamily R member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:27,196,902...27,198,377
Ensembl chr21:27,196,578...27,198,536 		JBrowse link
G OSBPL5 oxysterol binding protein like 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:47,043,818...47,068,277
Ensembl chr18:47,043,829...47,120,907 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,348,328...26,371,266
Ensembl chr21:26,348,378...26,370,380 		JBrowse link
G PHLDA2 pleckstrin homology like domain family A member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,680,015...25,708,834
Ensembl chr18:25,680,342...25,708,502 		JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,182,569...45,187,937
Ensembl chr18:45,182,566...45,187,268 		JBrowse link
G POLR2L RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,201,194...45,203,825 JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,670,074...25,672,644
Ensembl chr18:25,668,457...25,672,651 		JBrowse link
G RHOG ras homolog family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,371,868...26,373,395
Ensembl chr21:26,372,462...26,373,037 		JBrowse link
G RNH1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,604,736...25,614,602
Ensembl chr18:25,606,029...25,614,629 		JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,176,539...45,178,270 JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,595,838...26,631,476
Ensembl chr21:26,595,914...26,631,135 		JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G SLC22A18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375 		JBrowse link
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,069,380...46,075,477
Ensembl chr18:46,072,495...46,075,480 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,764,138...25,772,043 JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:25,733,400...25,739,682 JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,076,816...46,079,362
Ensembl chr18:46,077,581...46,079,361 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,131,925...46,148,577
Ensembl chr18:46,074,700...46,149,131 		JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,559,385...45,578,467
Ensembl chr18:45,560,681...45,578,449 		JBrowse link
G TRIM21 tripartite motif containing 21 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,775,227...26,783,180
Ensembl chr21:26,775,672...26,783,725 		JBrowse link
G TRIM68 tripartite motif containing 68 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr21:26,982,173...26,992,162
Ensembl chr21:26,982,876...26,989,144 		JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,479,397...46,493,279
Ensembl chr18:46,478,759...46,498,043 		JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,422,499...46,438,512
Ensembl chr18:46,422,259...46,437,272 		JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:45,220,763...45,224,981
Ensembl chr18:45,203,620...45,224,674 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr18:46,476,168...46,478,651
Ensembl chr18:46,477,427...46,478,389 		JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,031,906...113,037,418
Ensembl chr 1:113,031,764...113,036,229 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,899,416...32,911,442
Ensembl chr 5:32,896,238...32,911,552 		JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,878,348...32,888,253
Ensembl chr 5:32,878,338...32,888,316 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,917,681...32,941,470
Ensembl chr 5:32,918,065...32,941,752 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,391,670...112,410,160 JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,096,108...33,110,551
Ensembl chr 5:33,098,159...33,121,083 		JBrowse link
G ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,944,774...75,992,586 JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:33,014,098...33,028,951
Ensembl chr 5:33,014,102...33,033,948 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,699,679...112,727,434
Ensembl chr 1:112,700,365...112,726,960 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,576,992...112,579,104 JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,579,345...112,599,163 JBrowse link
G BLVRB biliverdin reductase B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:33,002,458...33,004,555
Ensembl chr 5:33,003,149...33,004,204 		JBrowse link
G BRDT bromodomain testis associated ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,918,939...56,977,355
Ensembl chr 6:56,919,195...56,965,638 		JBrowse link
G BTBD8 BTB domain containing 8 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,756,682...56,849,849
Ensembl chr 6:56,698,320...56,900,173 		JBrowse link
G C1H19orf47 chromosome 1 C19orf47 homolog ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,325,289...113,353,039
Ensembl chr 1:113,322,757...113,343,736 		JBrowse link
G C6H1orf146 chromosome 6 C1orf146 homolog ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,665,170...56,723,591
Ensembl chr 6:56,679,039...56,723,652 		JBrowse link
G CCDC97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,648,610...112,659,740
Ensembl chr 1:112,650,467...112,659,650 		JBrowse link
G CCNP cyclin P ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,412,012...113,417,046
Ensembl chr 1:113,415,225...113,416,496 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,411,281...112,414,827
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G CDC7 cell division cycle 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:57,336,165...57,362,478
Ensembl chr 6:57,337,407...57,362,757 		JBrowse link
G CEACAM24 carcinoembryonic antigen-related cell adhesion molecule 24 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:111,745,413...111,756,011 JBrowse link
G CEACAM28 carcinoembryonic antigen-related cell adhesion molecule 28 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:111,812,571...111,834,985
Ensembl chr 1:111,745,413...111,917,830 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082 		JBrowse link
G CNFN cornifelin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,014,089...112,015,884
Ensembl chr 1:112,014,746...112,015,784 		JBrowse link
G CNR2 cannabinoid receptor 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,777,242...32,811,747
Ensembl chr 5:32,777,341...32,811,518 		JBrowse link
G COQ8B coenzyme Q8B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,056,369...113,075,773
Ensembl chr 1:113,057,141...113,102,074 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142 		JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,714,130...32,721,719 JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A polypeptide 13 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,932,246...112,938,248
Ensembl chr 1:112,931,985...112,938,350 		JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076 		JBrowse link
G CYP2B6 cytochrome P450 2B11 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,973,776...112,986,419
Ensembl chr 1:112,974,847...112,986,123 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,735,586...112,747,534
Ensembl chr 1:112,736,706...112,747,555 		JBrowse link
G DEDD2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,148,146...112,164,473
Ensembl chr 1:112,148,925...112,163,770 		JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,737,662...113,745,936 JBrowse link
G DMAC2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,567,786...112,573,471
Ensembl chr 1:112,567,837...112,573,531 		JBrowse link
G DMRTC2 DMRT like family C2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,434,046...112,439,712
Ensembl chr 1:112,434,485...112,439,088 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,600,902...32,688,560
Ensembl chr 5:32,602,553...32,688,559 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,644,191...113,652,441
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
G E2F2 E2F transcription factor 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,901,009...75,923,406
Ensembl chr 2:75,901,058...75,923,255 		JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,588,062...32,592,390
Ensembl chr 5:32,574,134...32,594,333 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,992,779...113,001,836
Ensembl chr 1:112,992,780...113,000,677 		JBrowse link
G ELOA elongin A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,730,467...75,746,438
Ensembl chr 2:75,732,725...75,741,999 		JBrowse link
G EPHX4 epoxide hydrolase 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,863,779...56,900,312 JBrowse link
G ERF ETS2 repressor factor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,117,338...112,124,464
Ensembl chr 1:112,117,141...112,124,077 		JBrowse link
G ERICH4 glutamate rich 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,562,457...112,578,101
Ensembl chr 1:112,562,437...112,564,498 		JBrowse link
G EVI5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,255,753...56,450,631
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G EXOSC5 exosome component 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,599,519...112,609,039
Ensembl chr 1:112,599,568...112,608,941 		JBrowse link
G FBL fibrillarin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,632,899...113,643,805
Ensembl chr 1:113,632,929...113,643,748 		JBrowse link
G FCGBP Fc gamma binding protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,586,795...113,625,932 JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 ISO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 7:11,001,155...11,038,910
Ensembl chr 7:11,001,101...11,035,980 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,665,473...75,677,087
Ensembl chr 2:75,665,469...75,688,629 		JBrowse link
G GALE UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,704,012...75,708,206
Ensembl chr 2:75,704,558...75,708,169 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:41,967,674...41,979,241
Ensembl chr  X:41,967,812...41,979,243 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,270,157...112,321,672
Ensembl chr 1:112,270,424...112,321,672 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,129,116...112,138,714
Ensembl chr 1:112,103,825...112,138,559 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687 		JBrowse link
G HEATR3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr 2:65,178,268...65,218,129
Ensembl chr 2:65,151,717...65,218,109 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,944,351...32,950,433
Ensembl chr 5:32,944,037...32,947,591 		JBrowse link
G HFM1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:57,403,006...57,541,616
Ensembl chr 6:57,403,471...57,534,615 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,297,079...113,304,399
Ensembl chr 1:113,297,258...113,304,101 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,688,736...75,703,095
Ensembl chr 2:75,688,827...75,702,965 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:76,073,553...76,108,763
Ensembl chr 2:76,077,022...76,105,433 		JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,661,955...112,699,112
Ensembl chr 1:112,662,429...112,697,403 		JBrowse link
G HTR1D 5-hydroxytryptamine receptor 1D ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:76,198,343...76,200,005 JBrowse link
G ID3 inhibitor of DNA binding 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,880,659...75,881,786
Ensembl chr 2:75,880,657...75,882,010 		JBrowse link
G IFNLR1 interferon lambda receptor 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,431,842...75,447,917
Ensembl chr 2:75,437,617...75,444,768 		JBrowse link
G IL22RA1 interleukin 22 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,454,087...75,475,211
Ensembl chr 2:75,454,164...75,474,218 		JBrowse link
G IQCG IQ motif containing G ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr33:28,745,089...28,791,744
Ensembl chr33:28,745,316...28,800,119 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,037,833...113,053,877
Ensembl chr 1:113,039,093...113,053,738 		JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,777,435...32,783,619
Ensembl chr 5:32,777,791...32,783,611 		JBrowse link
G KDM1A lysine demethylase 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,689,000...32,711,026
Ensembl chr 5:32,696,211...32,710,666 		JBrowse link
G KLF1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G KRBA2 KRAB-A domain containing 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,144,223...33,151,175
Ensembl chr 5:33,147,045...33,150,779 		JBrowse link
G LEUTX leucine twenty homeobox ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532
G LIPE lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:111,987,862...112,006,492
Ensembl chr 1:111,988,029...112,006,461 		JBrowse link
G LOC100684414 zinc finger protein 780A-like ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,506,667...113,528,250 JBrowse link
G LOC100684639 proline-rich nuclear receptor coactivator 2-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr22:3,585,510...3,587,147 JBrowse link
G LOC106559787 60S ribosomal protein L17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr15:51,161,739...51,162,360 JBrowse link
G LOC119870572 small Cajal body-specific RNA 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...
G LOC119872052 U8 small nucleolar RNA ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...
G LOC119872403 small nucleolar RNA SNORD21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
G LOC119872406 small nucleolar RNA SNORA66 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868
G LOC612523 EP300-interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,712,193...113,713,420 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442 		JBrowse link
G LUZP1 leucine zipper protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:76,242,226...76,312,361
Ensembl chr 2:76,242,572...76,309,688 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,439,900...112,445,935
Ensembl chr 1:112,443,993...112,445,932 		JBrowse link
G LYPLA2 lysophospholipase 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,708,254...75,711,155
Ensembl chr 2:75,708,988...75,721,286 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,422,239...113,435,979
Ensembl chr 1:113,422,518...113,428,688 		JBrowse link
G MEGF8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,020,344...112,063,120
Ensembl chr 1:112,021,960...112,024,773 		JBrowse link
G MIA MIA SH3 domain containing ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,012,765...113,016,742 JBrowse link
G MYOM3 myomesin 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,481,191...75,529,559
Ensembl chr 2:75,483,897...75,528,402 		JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,712,799...32,714,493
Ensembl chr 5:32,712,805...32,713,600 		JBrowse link
G NUMBL NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,076,678...113,103,114
Ensembl chr 1:113,057,141...113,102,074 		JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,118,401...33,121,979
Ensembl chr 5:33,120,604...33,121,945 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,078,131...112,080,874
Ensembl chr 1:112,063,074...112,080,873 		JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,957,517...32,972,368
Ensembl chr 5:32,957,127...32,968,465 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G PITHD1 PITH domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,714,592...75,721,301
Ensembl chr 2:75,708,988...75,721,286 		JBrowse link
G PLD3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,305,146...113,322,705
Ensembl chr 1:113,305,445...113,312,632 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,800,620...113,811,478
Ensembl chr 1:113,800,305...113,810,683 		JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436 		JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,165,908...112,252,712
Ensembl chr 1:112,220,511...112,321,672 		JBrowse link
G PRR19 proline rich 19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:112,074,045...112,076,036
Ensembl chr 1:112,073,031...112,075,316 		JBrowse link
G PRX periaxin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,279,940...113,294,042 JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,548,351...113,557,725
Ensembl chr 1:113,548,373...113,557,630 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,003,317...113,011,978
Ensembl chr 1:113,003,318...113,011,947 		JBrowse link
G RABAC1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,351,416...112,354,010
Ensembl chr 1:112,351,388...112,354,045 		JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,084,355...33,085,810
Ensembl chr 5:33,084,397...33,085,812 		JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More...
G RPAP2 RNA polymerase II associated protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:56,564,310...56,644,382 JBrowse link
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605 		JBrowse link
G RPL17 ribosomal protein L17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr 7:79,264,088...79,268,083
Ensembl chr 7:79,264,098...79,268,123 		JBrowse link
G RPL19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:23,171,508...23,175,656
Ensembl chr 9:23,171,508...23,175,656 		JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 More... NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302 		JBrowse link
G RPL35A ribosomal protein L35a ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956 		JBrowse link
G RPL9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 3:72,989,526...72,993,944
Ensembl chr 3:72,989,592...72,993,949 		JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780 		JBrowse link
G RPS16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,795,239...113,798,380
Ensembl chr 1:113,644,100...113,828,488 		JBrowse link
G RPS17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: AREGENERATIVE ANEMIA, CHRONIC CONGENITAL | ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G RPS20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr29:7,488,481...7,489,850 JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 More... NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806 		JBrowse link
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 More... NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420 		JBrowse link
G RPS7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178 		JBrowse link
G RPSA ribosomal protein SA ISO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr23:9,070,953...9,077,058
Ensembl chr23:9,070,953...9,077,057 		JBrowse link
G SELENOV selenoprotein V ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,718,244...113,730,599 JBrowse link
G SERTAD1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,270,199...113,273,112
Ensembl chr 1:113,272,051...113,272,764 		JBrowse link
G SERTAD3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,258,274...113,264,013
Ensembl chr 1:113,261,354...113,263,899 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,154,285...113,165,988
Ensembl chr 1:113,154,460...113,165,992 		JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr 5:33,085,781...33,089,379
Ensembl chr 5:33,085,537...33,089,021 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,018,268...113,030,827
Ensembl chr 1:113,018,304...113,030,734 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,167,251...113,243,071
Ensembl chr 1:113,168,484...113,240,934 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,587,561...75,601,099
Ensembl chr 2:75,587,584...75,598,925 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,759,419...113,788,490
Ensembl chr 1:113,759,423...113,788,447 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:41,894,623...41,907,854
Ensembl chr  X:41,893,045...41,906,403 		JBrowse link
G TCEA3 transcription elongation factor A3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:75,998,154...76,040,461
Ensembl chr 2:75,998,214...76,040,413 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:57,025,096...57,220,240
Ensembl chr 6:57,025,112...57,217,121 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,749,778...113,758,480
Ensembl chr 1:113,749,994...113,757,930 		JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,991,000...32,993,319
Ensembl chr 5:32,991,021...32,993,248 		JBrowse link
G TMEM145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,063,552...112,072,095
Ensembl chr 1:112,063,551...112,072,244 		JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,711,289...32,712,281
Ensembl chr 5:32,711,305...32,712,108 		JBrowse link
G TMEM91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,610,660...112,615,813 JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,784,577...32,786,060
Ensembl chr 5:32,784,846...32,786,163 		JBrowse link
G TTC9B tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:113,419,556...113,422,057
Ensembl chr 1:113,419,715...113,422,045 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,975,372...32,977,967 JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:41,882,240...41,890,053
Ensembl chr  X:41,882,875...41,890,058 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333 		JBrowse link
G ZNF436 zinc finger protein 436 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 2:76,049,169...76,058,428
Ensembl chr 2:76,049,313...76,057,277 		JBrowse link
G ZNF526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,141,455...112,148,728
Ensembl chr 1:112,142,061...112,144,184 		JBrowse link
G ZNF574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:112,261,547...112,266,706 JBrowse link
G ZNF699 zinc finger protein 699 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr20:51,361,483...51,376,795
Ensembl chr20:51,365,371...51,372,232 		JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741 		JBrowse link
G HEATR3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr 2:65,178,268...65,218,129
Ensembl chr 2:65,151,717...65,218,109 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 OMIM
ClinVar		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKZF4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr10:332,614...360,470
Ensembl chr10:342,097...357,364 		JBrowse link
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420 		JBrowse link
G SUOX sulfite oxidase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr10:327,656...331,826
Ensembl chr10:327,671...331,825 		JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 OMIM
ClinVar		 PMID:22431104 PMID:25741868 PMID:28492532 NCBI chr 5:33,152,114...33,158,237
Ensembl chr 5:33,152,113...33,158,302 		JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKIRAS1 NFKB inhibitor interacting Ras like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition ClinVar PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr23:19,829,764...19,861,462
Ensembl chr23:19,830,124...19,861,424 		JBrowse link
G RPL15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition OMIM
ClinVar		 PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr23:19,825,622...19,829,807
Ensembl chr23:19,825,622...19,829,807 		JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 | ClinVar Annotator: match by term: RPS29-related condition OMIM
ClinVar		 PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr 8:26,221,546...26,223,580 JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:46,194,950...46,239,291
Ensembl chr  X:46,194,735...46,270,701 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition OMIM
ClinVar		 PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420 		JBrowse link
G RPS28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr20:52,901,953...52,903,244
Ensembl chr20:52,902,031...52,903,244 		JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:46,189,810...46,194,949
Ensembl chr  X:46,189,870...46,296,966 		JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL27 ribosomal protein L27 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 | ClinVar Annotator: match by term: RPL27-related condition OMIM
ClinVar		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr 9:20,063,524...20,066,915
Ensembl chr 9:20,063,525...20,066,892 		JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 | ClinVar Annotator: match by term: RPS27-related condition OMIM
ClinVar		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293 		JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL18 ribosomal protein L18 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 | ClinVar Annotator: match by term: RPL18-related condition OMIM
ClinVar		 PMID:25741868 PMID:28280134 PMID:28492532 NCBI chr 1:107,690,021...107,694,586
Ensembl chr 1:107,688,074...107,694,596 		JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL35 ribosomal protein L35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition OMIM
ClinVar		 PMID:28280134 PMID:28492532 NCBI chr 9:58,153,433...58,158,597
Ensembl chr 9:58,153,260...58,162,327 		JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS15A ribosomal protein S15a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 OMIM
ClinVar		 PMID:27909223 NCBI chr 6:26,322,478...26,329,529
Ensembl chr 6:26,322,569...26,329,668 		JBrowse link
Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEATR3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chr 2:65,178,268...65,218,129
Ensembl chr 2:65,151,717...65,218,109 		JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436 		JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition OMIM
ClinVar		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806 		JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 OMIM
ClinVar		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452 		JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FYTTD1 forty-two-three domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr33:28,920,361...28,947,111
Ensembl chr33:28,920,361...28,945,707 		JBrowse link
G IQCG IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chr33:28,745,089...28,791,744
Ensembl chr33:28,745,316...28,800,119 		JBrowse link
G LRCH3 leucine rich repeats and calponin homology domain containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr33:28,792,654...28,913,521
Ensembl chr33:28,795,134...28,913,489 		JBrowse link
G RPL35A ribosomal protein L35a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672 		JBrowse link
G RUBCN rubicon autophagy regulator ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr33:28,947,439...29,011,737
Ensembl chr33:28,946,944...29,009,346 		JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI chr 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 OMIM
ClinVar		 PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956 		JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chr 2:75,781,210...75,785,614
Ensembl chr 2:75,781,091...75,785,605 		JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADI1 acireductone dioxygenase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr17:2,087,107...2,095,576 JBrowse link
G COLEC11 collectin subfamily member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr17:2,147,679...2,180,096
Ensembl chr17:2,147,882...2,180,098 		JBrowse link
G RNASEH1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr17:2,117,446...2,127,893
Ensembl chr17:2,117,446...2,127,893 		JBrowse link
G RPS7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr17:2,139,011...2,143,160
Ensembl chr17:2,138,779...2,143,178 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr17:1,988,952...2,072,854
Ensembl chr17:1,999,613...2,072,502 		JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 More... NCBI chr12:3,713,984...3,720,149
Ensembl chr12:3,713,980...3,719,780 		JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like OMIM
ClinVar		 PMID:28283061 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768 		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 chr 5:31,681,605...31,683,261 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 CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 PMID:30028003 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		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 OMIM
ClinVar		 PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr 2:71,474,916...71,673,052
Ensembl chr 2:71,474,954...71,584,266 		JBrowse link
Elliptocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar PMID:25741868 NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2 OMIM
ClinVar		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic ISO
IAGP 		ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3
Elliptocytosis, SPTB-related 		OMIM
ClinVar
OMIA		 PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 More... NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		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 BIVM basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,296,126...52,335,744 JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,228,429...52,257,920 JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,339,011...52,372,618 JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:51,379,799...51,983,662
Ensembl chr22:51,380,788...51,982,849 		JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,181,222...52,194,859
Ensembl chr22:52,182,115...52,190,163 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,274,616...52,295,981
Ensembl chr22:52,146,466...52,372,304 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,523,679...52,541,976
Ensembl chr22:52,523,568...52,541,976 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr22:52,260,841...52,267,711
Ensembl chr22:52,260,841...52,267,664 		JBrowse link
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:16199547 PMID:17576681 PMID:25414442 PMID:25640679 More... NCBI chr22:52,105,821...52,176,213
Ensembl chr22:52,105,886...52,175,426 		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: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome OMIM
ClinVar		 PMID:19268275 PMID:25741868 PMID:28492532 NCBI chr24:21,122,033...21,128,368
Ensembl chr24:21,120,213...21,128,320 		JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,798,839...11,839,591
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,288,339...64,338,596
Ensembl chr 5:64,289,295...64,414,637 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077 		JBrowse link
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,075,797...12,105,911
Ensembl chr  X:12,076,724...12,103,654 		JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,563,154...64,565,537
Ensembl chr 5:64,563,192...64,565,445 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,542,466...11,567,633
Ensembl chr  X:11,542,466...11,582,983 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,505,941...11,533,335
Ensembl chr  X:11,505,941...11,533,135 		JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667 		JBrowse link
G BMX BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,742,805...11,795,437
Ensembl chr  X:11,738,365...11,795,436 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia 		RGD
ClinVar		 PMID:9536098 PMID:11030417 PMID:11185744 PMID:11430722 PMID:12065746 More... RGD:734658 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		JBrowse link
G C8H14orf28 chromosome 8 C14orf28 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 8:22,366,822...22,378,411
Ensembl chr 8:22,369,790...22,375,025 		JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:65,269,855...65,297,593
Ensembl chr 5:65,269,635...65,296,777 		JBrowse link
G CA5B carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,908,426...12,042,327
Ensembl chr  X:11,930,884...12,040,221 		JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,432,291...64,518,905
Ensembl chr 5:64,431,843...64,519,528 		JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,258,451...64,277,184
Ensembl chr 5:64,258,741...64,277,190 		JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 5:63,878,517...63,897,540
Ensembl chr 5:63,879,024...63,897,373 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		JBrowse link
G CENPBD1 CENPB DNA-binding domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 5:63,649,010...63,651,612 JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:63,897,544...63,906,515
Ensembl chr 5:63,897,594...63,905,550 		JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,863,479...11,908,361
Ensembl chr  X:11,798,839...11,900,594 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:63,951,547...63,978,389
Ensembl chr 5:63,951,549...63,978,601 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893 		JBrowse link
G DBNDD1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 5:63,608,941...63,621,927
Ensembl chr 5:63,619,160...63,620,670 		JBrowse link
G DEF8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 5:63,656,411...63,671,934
Ensembl chr 5:63,656,218...63,669,025 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:63,909,034...63,923,309
Ensembl chr 5:63,909,042...63,923,492 		JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		RGD
ClinVar		 PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:6720839 More... RGD:11344914 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More... NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029 		JBrowse link
G FANCC FA complementation group C onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		RGD
ClinVar		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11344914 NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:11239453 PMID:14695169 PMID:16199547 PMID:16280053 More... NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11001585 PMID:17308347 PMID:17924555 PMID:22778927 PMID:24728327 More... NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405 		JBrowse link
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 8:22,550,241...22,560,501
Ensembl chr 8:22,550,413...22,560,465 		JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708 		JBrowse link
G FSCB fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 8:22,004,599...22,033,057
Ensembl chr 8:22,004,789...22,007,425 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,534,194...64,562,169
Ensembl chr 5:64,534,131...64,562,169 		JBrowse link
G GAS8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 5:63,589,196...63,609,014
Ensembl chr 5:63,573,941...63,619,476 		JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,702,668...64,703,694
Ensembl chr 5:64,702,730...64,703,984 		JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294 		JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:65,387,373...65,442,333
Ensembl chr 5:65,387,374...65,441,645 		JBrowse link
G KLHL28 kelch like family member 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 8:22,387,057...22,420,491
Ensembl chr 8:22,391,451...22,405,141 		JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MOSPD2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,147,782...11,200,838
Ensembl chr  X:11,147,958...11,200,117 		JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,683,146...64,691,576
Ensembl chr 5:64,682,276...64,691,073 		JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,525,929...64,527,654 JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,570,327...11,583,401 JBrowse link
G PIR pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,627,337...11,733,489
Ensembl chr  X:11,627,337...11,733,489 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 8:22,510,816...22,549,481
Ensembl chr 8:22,511,329...22,549,226 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 More... NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,647,411...64,655,994
Ensembl chr 5:64,647,415...64,655,999 		JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:63,978,424...63,980,698
Ensembl chr 5:63,978,424...63,980,603 		JBrowse link
G SLC22A31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,254,330...64,258,295
Ensembl chr 5:64,255,239...64,259,186 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,661,122...64,668,589
Ensembl chr 5:64,661,190...64,667,690 		JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 5:63,874,072...63,878,512
Ensembl chr 5:63,873,005...63,878,395 		JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419 		JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma 		CTD
RGD		 PMID:8438880 PMID:22628295 PMID:24021704 RGD:10450524 RGD:11049161 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr 8:22,420,718...22,499,435
Ensembl chr 8:22,420,584...22,497,671 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035 		JBrowse link
G TUBB3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr 5:63,681,765...63,690,898
Ensembl chr 5:63,681,752...63,729,684 		JBrowse link
G USP1 ubiquitin specific peptidase 1 ISO MouseDO NCBI chr 5:47,655,533...47,666,767
Ensembl chr 5:47,656,039...47,666,210 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
G VEGFD vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:11,590,097...11,627,199
Ensembl chr  X:11,590,089...11,626,486 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 5:63,858,158...63,870,167
Ensembl chr 5:63,859,134...63,870,158 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,708,472...64,774,098
Ensembl chr 5:64,704,083...64,766,994 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,812,353...64,863,278 JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 5:64,887,534...64,903,553 JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:12,046,163...12,073,617
Ensembl chr  X:12,046,921...12,073,440 		JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
G CDK10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 5:63,878,517...63,897,540
Ensembl chr 5:63,879,024...63,897,373 		JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 5:63,897,544...63,906,515
Ensembl chr 5:63,897,594...63,905,550 		JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 5:63,951,547...63,978,389
Ensembl chr 5:63,951,549...63,978,601 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 5:63,909,034...63,923,309
Ensembl chr 5:63,909,042...63,923,492 		JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A OMIM
ClinVar		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:6720839 More... NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532 More... NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:25927356 PMID:28492532 PMID:36622392 NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 More... NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
G SPATA2L spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 5:63,874,072...63,878,512
Ensembl chr 5:63,873,005...63,878,395 		JBrowse link
G VPS9D1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 5:63,858,158...63,870,167
Ensembl chr 5:63,859,134...63,870,158 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189 		JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr 5:63,838,818...63,857,742
Ensembl chr 5:63,838,987...63,857,924 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr 5:64,887,534...64,903,553 JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B OMIM
ClinVar		 PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 More... NCBI chr  X:10,690,826...11,140,838
Ensembl chr  X:11,095,200...11,141,029 		JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395 		JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C OMIM
ClinVar		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506 		JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM
ClinVar		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
Fanconi anemia complementation group D2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:16116423 PMID:17033622 PMID:21964575 PMID:25186627 PMID:25741868 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2 OMIM
ClinVar		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia complementation group E OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr12:4,587,053...4,600,946
Ensembl chr12:4,587,041...4,600,405 		JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia complementation group F OMIM
ClinVar		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618 		JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G OMIM
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751 		JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714 		JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... NCBI chr 3:52,282,955...52,357,874
Ensembl chr 3:52,282,731...52,357,226 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22237560 PMID:22778927 PMID:23524600 PMID:25488682 More... NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRIP1 BRCA1 interacting helicase 1 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group J ClinVar
OMIM		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788 		JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr10:58,521,480...58,637,352
Ensembl chr10:58,521,552...58,637,482 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr10:58,432,144...58,544,189
Ensembl chr10:58,431,978...58,544,189 		JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:26467025 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PALB2 partner and localizer of BRCA2 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group N OMIM
ClinVar		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745 		JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSF5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr 9:33,064,533...33,109,844
Ensembl chr 9:33,066,726...33,109,787 		JBrowse link
G MTMR4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr 9:33,110,983...33,136,843
Ensembl chr 9:33,112,143...33,136,684 		JBrowse link
G RAD51C RAD51 paralog C susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition OMIM
ClinVar		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chr 9:33,289,675...33,347,411
Ensembl chr 9:33,289,742...33,326,405 		JBrowse link
G RNF43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313 		JBrowse link
G SEPTIN4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr 9:33,138,167...33,162,212
Ensembl chr 9:33,138,165...33,157,996 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr 9:33,174,813...33,289,202
Ensembl chr 9:33,174,814...33,262,870 		JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group P OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 More... NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group Q OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887 		JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51 RAD51 recombinase ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr30:7,842,540...7,877,128
Ensembl chr30:7,842,540...7,877,606 		JBrowse link
Fanconi anemia complementation group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S ClinVar
OMIM		 PMID:1157798 PMID:1514655 PMID:2173504 PMID:2316185 PMID:2504116 More... NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:25741868 NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559 		JBrowse link
G LGR6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr 7:731,934...837,092
Ensembl chr 7:731,931...834,893 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr 7:719,128...726,128
Ensembl chr 7:719,116...725,898 		JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group U OMIM
ClinVar		 PMID:11118202 PMID:16169065 PMID:19690184 PMID:21240073 PMID:22232082 More... NCBI chr16:16,402,821...16,429,095
Ensembl chr16:16,402,933...16,429,037 		JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAD2L2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group V | ClinVar Annotator: match by term: MAD2L2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27500492 PMID:28492532 NCBI chr 2:84,539,724...84,549,402
Ensembl chr 2:84,545,226...84,549,356 		JBrowse link
Fanconi anemia complementation group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFWD3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group W | ClinVar Annotator: match by term: RFWD3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26474068 PMID:28492532 More... NCBI chr 5:75,960,909...76,001,088
Ensembl chr 5:75,960,955...76,000,467 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,754,965...121,772,209
Ensembl chr  X:121,755,221...121,772,541 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,751,606...121,754,771
Ensembl chr  X:121,752,027...121,754,771 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,330,371...121,334,634
Ensembl chr  X:121,330,259...121,334,634 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,081,262...123,143,509
Ensembl chr  X:123,081,050...123,140,133 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,409,169...121,418,666
Ensembl chr  X:121,409,625...121,418,395 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,268,867...123,291,467
Ensembl chr  X:123,268,867...123,291,467 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,071,076...123,080,799 JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,460,116...121,472,605
Ensembl chr  X:121,460,895...121,472,608 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,205,043...122,212,626
Ensembl chr  X:122,205,683...122,212,195 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,148,234...122,158,172
Ensembl chr  X:122,148,282...122,154,807 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,046,451...123,064,580
Ensembl chr  X:123,045,954...123,064,580 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO 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 A- | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES ClinVar PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:835572 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,741,199...122,822,446
Ensembl chr  X:122,741,197...122,779,143 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:122,910,412...122,913,373
Ensembl chr  X:122,910,968...122,913,382 		JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,264,824...121,296,712
Ensembl chr  X:121,266,584...121,297,076 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		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: G6PD A- ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,185,300...122,186,498 JBrowse link
G LOC100683646 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,566,522...122,567,799 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:122,851,667...122,878,865
Ensembl chr  X:122,851,667...122,879,394 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,071,076...123,080,695
Ensembl chr  X:123,074,956...123,080,793 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,616,122...121,647,326
Ensembl chr  X:121,616,114...121,647,697 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,577,564...121,593,294
Ensembl chr  X:121,580,073...121,593,287 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,489,041...121,491,356
Ensembl chr  X:121,489,040...121,491,431 		JBrowse link
G PNMA6A PNMA family member 6A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:120,909,423...120,912,903
Ensembl chr  X:120,910,842...120,912,251 		JBrowse link
G PNMA6E PNMA family member 6E ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,218,147...121,220,896 JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,245,227...123,251,283
Ensembl chr  X:123,247,760...123,251,288 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,098,020...122,100,719
Ensembl chr  X:122,098,020...122,100,719 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,197,049...122,201,103
Ensembl chr  X:122,197,289...122,200,219 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,505,117...121,511,674
Ensembl chr  X:121,505,141...121,510,347 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:122,885,491...122,893,466 JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,608,802...121,613,796
Ensembl chr  X:121,608,944...121,613,795 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:121,815,982...121,820,790 JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,263,341...121,265,009
Ensembl chr  X:121,258,646...121,264,555 		JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chr  X:122,195,500...122,196,579
Ensembl chr  X:122,195,502...122,196,577 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,210,965...123,231,847
Ensembl chr  X:123,203,722...123,231,091 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,237,905...121,248,856
Ensembl chr  X:121,237,827...121,248,862 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:120,770,099...120,846,855
Ensembl chr  X:120,782,011...120,843,322 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:121,161,954...121,179,207
Ensembl chr  X:121,173,094...121,174,224 		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 term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency ClinVar PMID:5448 PMID:16832 PMID:472761 PMID:736032 PMID:848857 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G IFNG interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: G6PD deficiency ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562 		JBrowse link
G IL10 interleukin 10 no_association ISO DNA:SNPs:promoter:-1082G>A, -819T>C (human)
DNA:SNP:promoter:-592A>C (human) 		RGD PMID:15718915 RGD:11049178 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
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 ClinVar Annotator: match by term: Glutathione peroxidase deficiency OMIM
ClinVar		 PMID:10220143 PMID:25741868 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAGH hydroxyacylglutathione hydrolase ISO OMIM NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592 		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: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia OMIM
ClinVar		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606 		JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia OMIM
ClinVar		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Heinz body anemia OMIM
ClinVar		 PMID:13856 PMID:620088 PMID:1155453 PMID:1281602 PMID:1581238 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN BRISTOL | ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 ISO ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency ClinVar
OMIM		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL | ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL | ClinVar Annotator: match by term: Hemoglobin H disease | ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional OMIM
ClinVar		 PMID:13856 PMID:1281602 PMID:1581238 PMID:1634361 PMID:1686260 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN ADANA | ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA | ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO | ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 | ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS) | ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Abnormal hemoglobin | ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO | ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID | ClinVar Annotator: match by term: HEMOGLOBIN ICARIA | ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY | ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES | ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK | ClinVar Annotator: match by term: HEMOGLOBIN SINAI | ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE | ClinVar Annotator: match by term: Hemoglobin Val de Marne ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC609402 hemoglobin subunit beta-like severity ISO ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy RGD
ClinVar		 PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... RGD:10449038 NCBI chr21:28,187,535...28,188,991 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 ISO RGD PMID:11952820 RGD:704364 NCBI chr27:36,654,328...36,695,775 JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479 		JBrowse link
G AK1 adenylate kinase 1 ISO RGD PMID:10233365 RGD:1300279 NCBI chr 9:55,539,179...55,548,132
Ensembl chr 9:55,539,260...55,548,132 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529 		JBrowse link
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr 6:11,447,225...11,478,611
Ensembl chr 6:11,447,081...11,478,658 		JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 2:71,474,916...71,673,052
Ensembl chr 2:71,474,954...71,584,266 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:12064901 PMID:25741868 PMID:29300386 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds: 473C>T (p.158L)(human) 		CTD
RGD		 PMID:10515893 PMID:10733484 RGD:11049537 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:32581362 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G GSR glutathione-disulfide reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		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) 		RGD
CTD		 PMID:20547162 PMID:21274861 PMID:23933495 RGD:10766472 RGD:10766479 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN HYOGO | ClinVar Annotator: match by term: HEMOGLOBIN LUFKIN | ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN | ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO | ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK | ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED | ClinVar Annotator: match by term: HEMOGLOBIN PERTH | ClinVar Annotator: match by term: HEMOGLOBIN SABINE | ClinVar Annotator: match by term: HEMOGLOBIN VOLGA | ClinVar Annotator: match by term: HEMOGLOBIN ZURICH | ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:24022 PMID:42311 PMID:439565 PMID:893142 PMID:952960 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:60,374,743...60,396,244
Ensembl chr  X:60,374,754...60,423,947 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:9827908 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
G RHAG Rh associated glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr12:17,433,660...17,454,323
Ensembl chr12:17,433,670...17,454,311 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:8844207 PMID:10192450 PMID:25741868 PMID:27667160 PMID:28492532 More... NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1GALT1C1 C1GALT1 specific chaperone 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature ClinVar
OMIM		 PMID:25741868 PMID:36599939 PMID:37216524 NCBI chr  X:92,581,124...92,584,701
Ensembl chr  X:92,581,488...92,582,444 		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 chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:16197457 RGD:6893534 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CFH complement factor H ISO ClinVar Annotator: match by term: Hereditary hemolytic uremic syndrome ClinVar PMID:30595568 NCBI chr38:2,878,677...2,956,226 JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G F2 coagulation factor II, thrombin ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467 		JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134 RGD:6909171 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LOC480600 chemokine (C-C motif) ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr 9:37,708,561...37,710,209
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G LOC609365 CD46 molecule, complement regulatory protein-like susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)
DNA:mutations:multiple (human) 		RGD PMID:14566051 PMID:14615110 PMID:16189652 RGD:11352767 RGD:11352770 RGD:11531138 NCBI chr 7:6,602,762...6,646,561 JBrowse link
G MBL1 mannose binding lectin 1 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860 		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 chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114 		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 chr16:23,469,590...23,496,013 JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr20:6,031,295...6,090,938
Ensembl chr20:6,050,357...6,207,981 		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 ClinVar Annotator: match by term: Hereditary elliptocytosis ClinVar NCBI chr 2:71,474,916...71,673,052
Ensembl chr 2:71,474,954...71,584,266 		JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary 		ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		JBrowse link
hereditary pyropoikilocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary OMIM
ClinVar		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity ISO DNA:deletion mutation:exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant 		RGD
ClinVar		 PMID:9536098 PMID:14671619 PMID:17576681 PMID:25741868 PMID:28492532 RGD:11251681 NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:28492532 NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316 		JBrowse link
G KLF1 KLF transcription factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD
MouseDO		 PMID:20691777 RGD:10769342 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:25741868 PMID:28492532 PMID:36231035 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive 		ClinVar PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 More... NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant ClinVar PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 PMID:34201899 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD2 adducin 2 ISO OMIM:182900 MouseDO NCBI chr10:69,056,367...69,098,775
Ensembl chr10:69,057,267...69,098,521 		JBrowse link
G ANK1 ankyrin 1 ISO ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO OMIM:182900 MouseDO NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM:182900 MouseDO NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 ClinVar PMID:25741868 NCBI chr 5:34,810,791...34,838,177
Ensembl chr 5:34,810,921...34,837,904 		JBrowse link
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 8:39,112,613...39,155,115
Ensembl chr 8:39,072,389...39,155,173 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar PMID:25741868 NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis type 3 OMIM
ClinVar		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8844207 More... NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5 OMIM
ClinVar		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976 		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:11783948 PMID:12211198 PMID:12393545 More... NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:9,811,726...9,814,533
Ensembl chr 4:9,811,801...9,814,530 		JBrowse link
G ALB albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G C7H1orf105 chromosome 7 C1orf105 homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:26,490,012...26,561,542 JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505 		JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:33027564 PMID:37236975 NCBI chr 5:54,294,055...54,324,389
Ensembl chr 5:54,294,046...54,321,921 		JBrowse link
G DNAH14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:39,310,580...39,648,017
Ensembl chr 7:39,310,585...39,641,151 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564 NCBI chr 5:35,730,394...36,060,154
Ensembl chr 5:35,730,394...36,058,945 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:34645488 NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G FCRL4 Fc receptor like 4 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 7:40,644,899...40,670,549
Ensembl chr 7:40,644,234...40,678,326 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902 		JBrowse link
G FOXC2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 More... NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115 		JBrowse link
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr17:24,535,870...24,740,998
Ensembl chr17:24,535,897...24,740,889 		JBrowse link
G GUSB glucuronidase beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 More... NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805 		JBrowse link
G KIF19 kinesin family member 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:6,052,837...6,079,409
Ensembl chr 9:6,052,840...6,079,295 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr 4:29,430,139...29,434,640 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33027564 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		JBrowse link
G MOCS3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr24:37,268,781...37,271,581
Ensembl chr24:37,268,808...37,270,304 		JBrowse link
G MYBPHL myosin binding protein H like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:42,523,529...42,537,012
Ensembl chr 6:42,523,769...42,535,728 		JBrowse link
G MYO18A myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:43,226,170...43,325,026
Ensembl chr 9:43,227,187...43,322,545 		JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085 		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 More...
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr12:1,323,659...1,327,989
Ensembl chr12:1,323,877...1,328,520 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:27479843 PMID:28492532 PMID:28619848 PMID:30187933 More... NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 7:26,548,894...26,551,702
Ensembl chr 7:26,550,524...26,551,417 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr18:55,389,902...55,400,241
Ensembl chr18:55,389,897...55,400,240 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RAPSN receptor associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr18:42,199,160...42,210,668
Ensembl chr18:42,199,412...42,210,673 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 More... NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173 		JBrowse link
G ROCK2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr17:7,931,786...8,012,484
Ensembl chr17:7,934,739...8,178,707 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619 		JBrowse link
G SERPINA11 serpin family A member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 8:63,436,710...63,453,354
Ensembl chr 8:63,323,933...63,453,708 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 More... NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645 		JBrowse link
G SVOPL SVOP like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr16:9,949,845...10,023,997
Ensembl chr16:9,963,536...10,024,502 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560 		JBrowse link
G UBN1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:36,542,266...36,581,789
Ensembl chr 6:36,544,405...36,581,797 		JBrowse link
G VPS13D vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:83,898,620...84,132,453
Ensembl chr 2:83,901,018...84,132,529 		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 term: Hydrops, lactic acidosis, and sideroblastic anemia | ClinVar Annotator: match by term: LARS2-related condition OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672 		JBrowse link
Immuno-Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Immuno-hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		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 BCL11 transcription factor A ISO ClinVar Annotator: match by term: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:27453576 PMID:28492532 PMID:28891213 PMID:29758562 More... NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073 		JBrowse link
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:112,078,131...112,080,874
Ensembl chr 1:112,063,074...112,080,873 		JBrowse link
Lymphatic Malformation 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDFIC MyoD family inhibitor domain containing ISO ClinVar Annotator: match by term: Lymphatic malformation 12 OMIM
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr14:54,063,832...54,153,346
Ensembl chr14:54,063,769...54,166,197 		JBrowse link
Lymphatic Malformation 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560 		JBrowse link
Lymphatic Malformation 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCRL calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr36:29,342,869...29,442,977
Ensembl chr36:29,345,236...29,442,732 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 7:69,521,430...69,580,963 JBrowse link
G LOC607207 myosin regulatory light polypeptide 9 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 7:69,860,472...69,871,878 JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome OMIM
ClinVar		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899 		JBrowse link
G MYL12B myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 7:69,877,727...69,895,196 JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 7:69,703,057...69,837,987
Ensembl chr 7:69,703,540...69,857,740 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 7:69,359,286...69,505,067
Ensembl chr 7:69,358,447...69,621,067 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 7:70,040,376...70,048,346
Ensembl chr 7:70,040,508...70,047,912 		JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB5R3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:11295830 PMID:16469290 RGD:1599771 NCBI chr10:22,829,898...22,848,284
Ensembl chr10:22,819,221...22,848,284 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135 		JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC476167 cytochrome b5 type A pseudogene ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932 		JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117 NCBI chr21:28,187,535...28,188,991 JBrowse link
methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC476167 cytochrome b5 type A pseudogene ISO ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 OMIM
ClinVar		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 More... NCBI chr 1:5,070,817...5,106,668
Ensembl chr 1:5,070,865...5,106,932 		JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Methemoglobinemia, alpha type OMIM
ClinVar		 PMID:3026948 PMID:3957697 PMID:5896605 PMID:5964191 PMID:6998928 More... NCBI chr 6:40,324,378...40,325,427 JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:604314 PMID:750553 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:83,401,728...83,517,565
Ensembl chr  X:83,406,049...83,517,498 		JBrowse link
G LOC111092907 teratocarcinoma-derived growth factor 1-like ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr27:20,747,711...20,748,145 JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:83,639,071...83,650,359
Ensembl chr  X:83,643,872...83,650,356 		JBrowse link
G TMEM164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:83,219,530...83,384,900
Ensembl chr  X:83,219,505...83,381,564 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 More... NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition OMIM
ClinVar		 PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 More... NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr27:16,161,855...16,211,983
Ensembl chr27:16,163,357...16,211,957 		JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 | ClinVar Annotator: match by term: YARS2-related condition OMIM
ClinVar		 PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr27:16,139,462...16,162,701
Ensembl chr27:16,139,499...16,161,147 		JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		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
IAGP 		ClinVar Annotator: match by term: CYB5R3-related condition | ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE I | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY
Methaemoglobinaemia, CYB5R3-related 		OMIM
ClinVar
OMIA		 PMID:1159544 PMID:1400360 PMID:1707593 PMID:1898726 PMID:2107882 More... NCBI chr10:22,829,898...22,848,284
Ensembl chr10:22,819,221...22,848,284 		JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 More... NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		JBrowse link
Ovalocytosis, Malaysian-Melanesian-Filipino Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHAG Rh associated glycoprotein ISO ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: Potassium sodium disorder of erythrocyte | ClinVar Annotator: match by term: RHAG-related condition OMIM
ClinVar		 PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 NCBI chr12:17,433,660...17,454,323
Ensembl chr12:17,433,670...17,454,311 		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 chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar		 PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 More... NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr12:2,305,307...2,307,711 JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria ClinVar PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... NCBI chr  X:11,570,327...11,583,401 JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO CTD Direct Evidence: marker/mechanism CTD PMID:25417052 NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 OMIM
ClinVar		 PMID:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 More... NCBI chr  X:11,570,327...11,583,401 JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 ClinVar PMID:25741868 NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168 		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 OMIM
ClinVar		 PMID:23733340 PMID:25741868 PMID:28492532 NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168 		JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr12:2,305,307...2,307,711 JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr12:2,151,409...2,164,564 JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619 		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, regulator type OMIM
ClinVar		 PMID:9442063 PMID:10467273 PMID:25741868 PMID:28492532 PMID:32036089 More... NCBI chr12:17,433,660...17,454,323
Ensembl chr12:17,433,670...17,454,311 		JBrowse link
G RHCE Rh blood group CcEe antigens ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 2:74,466,902...74,503,451
Ensembl chr 2:74,466,928...74,503,448 		JBrowse link
G RSRP1 arginine and serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 2:74,545,114...74,549,840
Ensembl chr 2:74,545,264...74,549,832 		JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321 		JBrowse link
G APOB apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G B9D2 B9 domain containing 2 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BCL11A BCL11 transcription factor A severity
treatment 		ISO DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:21998251 PMID:22360576 RGD:11099970 RGD:11099996 RGD:11100007 NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073 		JBrowse link
G C3 complement C3 severity ISO protein:increased processing RGD PMID:3896597 PMID:7554454 RGD:11040773 RGD:11040777 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) treatment ISO protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:11041114 RGD:6893506 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		JBrowse link
G CFB complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159 RGD:11041160 NCBI chr12:1,400,143...1,406,267 JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr12:2,305,307...2,307,711 JBrowse link
G F2 coagulation factor II, thrombin disease_progression ISO protein:increased expression:plasma: RGD PMID:8191393 PMID:26286849 RGD:11565074 RGD:11565080 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607 		JBrowse link
G GCH1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756 RGD:11352757 RGD:11352775 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G HK1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:11238038 PMID:20306336 RGD:10755563 RGD:10755565 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:24281564 RGD:11046271 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269 		JBrowse link
G LOC485255 hemoglobin subunit epsilon-2 severity ISO sickle cell anemia with hereditary persistence of fetal hemoglobin, OMIM:141749 DNA:point_mutation:promoter:-158C>T, decreases the severity of the sickle cell disease which results from the presence of the Hemoglobin S allele RGD PMID:2432426 RGD:1600594 NCBI chr21:28,193,163...28,194,746 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S
ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S 		ClinVar PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:21085184 RGD:10412315 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity
no_association 		ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human) 		RGD PMID:20113291 PMID:22924497 RGD:10449403 RGD:10449420 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NOS3 nitric oxide synthase 3 severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NPPB natriuretic peptide B severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 2:84,395,844...84,397,473 JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778 		JBrowse link
G PGF placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G SELP selectin P ISO RGD PMID:21071696 RGD:6219007 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM:603903 MouseDO NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:8140855 PMID:14965870 RGD:10449460 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933 		JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16892088 PMID:18398482 PMID:18637800 RGD:11038732 NCBI chr  X:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417 		JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr11:67,736,643...67,752,399
Ensembl chr11:67,741,390...67,752,321 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:transversion:cds:p.F165L (human) 		CTD
RGD		 PMID:7949148 PMID:16716198 PMID:16892088 RGD:1599037 NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529 		JBrowse link
G CALR calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821 		JBrowse link
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia ClinVar PMID:9389715 PMID:32906214 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G PUS1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr26:955,413...965,561
Ensembl chr26:955,462...966,155 		JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788 		JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human) 		OMIM
ClinVar
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035241 RGD:11035243 NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529 		JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:46,692,667...46,703,309
Ensembl chr  X:46,693,191...46,702,195 		JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788 		JBrowse link
sideroblastic anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar		 PMID:25741868 PMID:32634119 NCBI chr26:22,103,803...22,120,200
Ensembl chr26:22,103,845...22,120,198 		JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRNT1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar		 PMID:2649490 PMID:3333257 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr20:14,275,853...14,296,908
Ensembl chr20:14,271,966...14,296,666 		JBrowse link
Stomatocytosis II 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: Stomatocytosis II ClinVar PMID:25741868 NCBI chr 1:111,391,464...111,407,612
Ensembl chr 1:111,391,159...111,407,701 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G LOC100855540 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:7786798 PMID:25741868 NCBI chr 6:40,324,378...40,325,427 JBrowse link
G LOC100855558 hemoglobin subunit alpha-like ISO ClinVar Annotator: match by term: Thalassemia ClinVar PMID:826080 PMID:3401329 PMID:4041267 PMID:5453914 PMID:5643522 More... NCBI chr 6:40,328,053...40,329,002 JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE) | ClinVar Annotator: match by term: Hemoglobin Lepore trait | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:511585 PMID:700140 PMID:701081 PMID:857849 PMID:1347969 More... NCBI chr21:28,187,535...28,188,991 JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO MouseDO NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
triosephosphate isomerase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Triosephosphate isomerase deficiency OMIM
ClinVar		 PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 More... NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBL1 mannose binding lectin 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PDE9A phosphodiesterase 9A treatment ISO RGD PMID:22833547 RGD:242905184 NCBI chr31:36,949,777...37,036,237
Ensembl chr31:36,949,723...37,035,809 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
X-linked congenital hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11C ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: ATP11C-related condition | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia OMIM
ClinVar		 PMID:25741868 PMID:26944472 PMID:28492532 NCBI chr  X:109,695,018...109,888,284
Ensembl chr  X:109,697,086...109,880,624 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 susceptibility ISO ClinVar Annotator: match by term: ABCB7-related condition | ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human) 		OMIM
ClinVar
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600 NCBI chr  X:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chr  X:46,703,477...46,731,767
Ensembl chr  X:46,703,477...46,723,529 		JBrowse link
X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis OMIM
ClinVar		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia OMIM
ClinVar		 PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:12,046,163...12,073,617
Ensembl chr  X:12,046,921...12,073,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      hematopoietic system disease 3697
        anemia 839
          normocytic anemia 736
            aplastic anemia + 342
            hemolytic anemia + 418
Path 2
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      Hemic and Lymphatic Diseases 4173
        hematopoietic system disease 3697
          anemia 839
            normocytic anemia 736
              aplastic anemia + 342
              hemolytic anemia + 418
paths to the root