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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.


show annotations for term's descendants           Sort by:
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human) 		RGD PMID:25263931 PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) 		RGD PMID:25130874 PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpha-re alpha-globin locus regulatory region ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:3191033 PMID:10602170 PMID:11017952 PMID:24025420 PMID:28791910 NCBI chr11:32,181,303...32,220,102 JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:24577940 RGD:11352811 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 severity ISO DNA:point mutation:exon:p.M1T (human)
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
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:c.179G>A (p.G60D);c.427¿¿¿T>C(human)
DNA:deletion:cds:c.del-2_-3del(human)
associated with Anemia, Sickle Cell;
DNA:missense mutation:cds: c.2T>C(human) 		ClinVar
CTD
OMIM
RGD		 PMID:508945 PMID:538560 PMID:640847 PMID:646867 PMID:949043 More... RGD:1599361, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567, RGD:10449442 NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 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;
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
RGD
CTD		 PMID:13856 PMID:478977 PMID:538560 PMID:620088 PMID:868864 More... RGD:10755568, RGD:10449442 NCBI chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hba-x hemoglobin X, alpha-like embryonic chain in Hba complex ISO ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 More... NCBI chr11:32,226,600...32,228,116
Ensembl chr11:32,226,400...32,228,116 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO 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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:274732 PMID:893136 More... RGD:11353869
G Hbq1b hemoglobin, theta 1B 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... NCBI chr11:32,236,964...32,237,912
Ensembl chr11:32,236,965...32,237,784 		JBrowse link
G Hp haptoglobin ISO RGD PMID:16760505 RGD:11041792 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Luc7l Luc7-like ISO ClinVar Annotator: match by term: Alpha-thalassemia, zf type ClinVar PMID:10910890 PMID:12730694 PMID:35190856 NCBI chr17:26,471,874...26,504,484
Ensembl chr17:26,471,870...26,504,478 		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, liver/bone/kidney 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 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
G Atp7a ATPase, copper transporting, alpha polypeptide 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:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:301040
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1770528 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 More... RGD:9586030, RGD:9586029, RGD:9586027 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B 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:105,059,306...105,066,056
Ensembl chr  X:105,059,306...105,066,056 		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 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		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:105,011,690...105,055,408
Ensembl chr  X:105,011,690...105,055,512 		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:105,230,706...105,247,305
Ensembl chr  X:105,230,706...105,247,305 		JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type ClinVar PMID:11791872 NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 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 chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3239563 PMID:9326931 PMID:10398237 PMID:10632111 PMID:10995512 More... NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1634361 PMID:2298455 PMID:2468982 PMID:3177365 PMID:4623704 More... NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 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 chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		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 2:25,162,469...25,175,928
Ensembl chr 2:25,162,490...25,175,927 		JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd86 CD86 antigen ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ddx41 DEAD box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr13:55,678,223...55,684,471
Ensembl chr13:55,678,223...55,684,471 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal susceptibility
disease_progression 		ISO DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) 		RGD PMID:21228718 PMID:26999617 RGD:11252118, RGD:11252120 NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		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 chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand ISO RGD PMID:16212902 RGD:1582425 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014 		JBrowse link
G Gfi1b growth factor independent 1B ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility
no_association 		ISO RGD PMID:14681495 PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha treatment ISO DNA:polymorphism, haplotype RGD PMID:12070003 PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity
treatment 		ISO DNA:polymorphism, haplotype RGD PMID:24979673 PMID:7994040 PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Ifng interferon gamma susceptibility
treatment 		ISO
IAGP 		ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
OMIM:609135
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron: 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:25741868 PMID:18426658 PMID:20953611 PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:73,770,663...73,775,510 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: Aplastic anemia, susceptibility to
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More... NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G Pola1 polymerase (DNA directed), alpha 1 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 NCBI chr  X:92,348,372...92,675,993
Ensembl chr  X:92,348,373...92,675,761 		JBrowse link
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO ClinVar Annotator: match by term: Aplastic anemia
ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: Inherited aplastic anemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
G Rasa3 RAS p21 protein activator 3 IAGP OMIM:609135 MouseDO NCBI chr 8:13,617,218...13,727,590
Ensembl chr 8:13,616,948...13,727,603 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia | ClinVar Annotator: match by term: SBDS-related condition 		CTD
OMIM
ClinVar		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 5:130,274,573...130,284,371
Ensembl chr 5:130,274,572...130,284,371 		JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:16990594 More... RGD:11038668 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility
severity 		ISO DNA:polymorphism: :509C>T(human)
protein:decreased expression: : 		RGD PMID:24362456 PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		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 chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:20301779 NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Zcchc8 zinc finger, CCHC domain containing 8 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:123,836,365...123,859,107
Ensembl chr 5:123,836,357...123,859,163 		JBrowse link
atypical hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO protein:decreased activity:serum (human)
ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar
RGD		 PMID:1787257 PMID:12753286 PMID:17187257 PMID:17627784 PMID:19847791 More... RGD:10449096 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640 		JBrowse link
G Baat bile acid-Coenzyme A: amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 4:49,489,416...49,507,915
Ensembl chr 4:49,489,422...49,506,557 		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:37,719,660...37,724,020
Ensembl chr  X:37,719,662...37,723,964 		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 chr17:35,081,578...35,101,076
Ensembl chr17:35,081,580...35,117,241 		JBrowse link
G C3 complement component 3 IGI
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: 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
CTD Direct Evidence: marker/mechanism
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
DNA:missense mutations: :p.F603V, p.R1042L, p.I1157T (human) 		ClinVar
OMIM
CTD
RGD		 PMID:1879662 PMID:1976733 PMID:6103091 PMID:7961791 PMID:9536098 More... RGD:7364995, RGD:11040768 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein severity
susceptibility 		ISO DNA:mutations:cds:multiple (human)
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
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human) 		ClinVar
OMIM
CTD
RGD		 PMID:270646 PMID:2431077 PMID:3480783 PMID:9536098 PMID:9551389 More... RGD:11038684, RGD:11352810, RGD:11040768, RGD:11352768 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cfb complement factor B ISO DNA, protein:mutations:cds: c.858C>G, F286L, c.967A>G, K323E (human)
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
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, 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, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:1577763 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 More... RGD:7242707, RGD:11040768 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfh complement component factor h ISO
IAGP 		DNA:missense mutation
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 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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations, missense mutations, splice-site mutation: :multiple
DNA:SNPs,Haplotype:: 		ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:646435 PMID:3418956 PMID:8072530 PMID:9536098 PMID:9551389 More... RGD:1599886, RGD:11041172, RGD:11041162, RGD:11040768, RGD:7364995 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Cfhr1 complement factor H-related 1 susceptibility ISO DNA:deletion
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 PMID:25741868 More... RGD:11041162 NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010 		JBrowse link
G Cfhr2 complement factor H-related 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 		CTD
OMIM
ClinVar		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:19745068 PMID:20843825 More... NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456 		JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:139,625,657...139,708,977
Ensembl chr 1:139,625,361...139,708,981 		JBrowse link
G Cfi complement component factor i susceptibility ISO 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
CTD Direct Evidence: marker/mechanism
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 		OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 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:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Dgke diacylglycerol kinase, epsilon ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria 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 chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Pla2r1 phospholipase A2 receptor 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 2:60,247,887...60,383,669
Ensembl chr 2:60,247,887...60,383,652 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling ATPase like 1 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
G Thbd thrombomodulin severity
susceptibility
no_association 		ISO 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
CTD Direct Evidence: marker/mechanism
DNA:SNPs:5' utr, 3' utr:multiple
DNA:missense mutations:CDS:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:7811989 PMID:9157575 PMID:9198186 PMID:9236408 PMID:10102456 More... RGD:11038684, RGD:11038691, RGD:11038691 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742 		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 chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
autoimmune hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III IMP RGD PMID:18209093 PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Il10 interleukin 10 treatment IMP RGD PMID:12093879 RGD:11049457 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Slc14a1 solute carrier family 14 (urea transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:78,143,306...78,185,334
Ensembl chr18:78,143,306...78,185,334 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 IDA RGD PMID:8325343 RGD:10450476 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		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 chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		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:166,024,119...166,047,325
Ensembl chr  X:166,025,692...166,047,325 		JBrowse link
G Tslp thymic stromal lymphopoietin IAGP OMIM:205700 MouseDO NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850 		JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More...
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 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 chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410 		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 chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570 		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 chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		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 chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628 		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, sub-family C member 6 IEP mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
G Apob apolipoprotein B ISO protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:22705320 RGD:11039491 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment 		ISO DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)
DNA:snp:intron:c.386-17267T>C (rs10189857) (human)
DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) 		RGD PMID:23541515 PMID:25574177 PMID:25751242 PMID:22258351 RGD:11099969, RGD:11100011, RGD:11100008, RGD:11100005 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Cfb complement factor B ISO protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Gata1 GATA binding protein 1 treatment ISO RGD PMID:16696909 RGD:10450613 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Gh growth hormone treatment ISO RGD PMID:2045623 RGD:11352730 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Gsr glutathione reductase ISO protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:12513847 RGD:11041746 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hamp hepcidin antimicrobial peptide treatment IEP
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16755567 PMID:17299088 PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: beta Thalassemia 		CTD
ClinVar		 PMID:1281602 PMID:1581238 PMID:2298455 PMID:2372512 PMID:3024968 More... NCBI chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hbb-3'hs1 beta-globin 3' hypersensitive site 1 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 7:103,442,107...103,443,110 JBrowse link
G Hbb-ar hemoglobin, activating region IAGP
ISO 		OMIM:187550 | OMIM:603902 | OMIM:613985
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: beta Thalassemia 		MouseDO
CTD
ClinVar
OMIM		 PMID:25682598 NCBI chr 7:103,501,973...103,526,752 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain treatment ISO
IAGP
EXP 		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:613985
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:393 PMID:8114 PMID:14597 PMID:14973 PMID:20942 More... RGD:11353868
G Hbb-b2 hemoglobin, beta adult minor chain ISO
EXP 		beta zero thalassemia
CTD Direct Evidence: marker/mechanism
beta-plus-thalassemia 		CTD
RGD		 PMID:17018382 PMID:6457059 PMID:6280057 RGD:1600893, RGD:1600895
G Hbb-bh1 hemoglobin Z, beta-like embryonic chain ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 7:103,490,845...103,492,369
Ensembl chr 7:103,490,844...103,492,371 		JBrowse link
G Hbb-y hemoglobin Y, beta-like embryonic chain ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 7:103,500,961...103,502,414
Ensembl chr 7:103,500,956...103,502,423 		JBrowse link
G Hbs1l Hbs1-like (S. cerevisiae) ISO DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr10:21,171,876...21,244,788
Ensembl chr10:21,171,878...21,244,797 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO DNA:missense mutations: :p.H63D, p.S65C (human)
DNA:missense mutation: :p.C282Y (human) 		RGD PMID:14703689 PMID:17160266 PMID:17160266 RGD:10755489, RGD:10755537, RGD:10755537 NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837 		JBrowse link
G Hp haptoglobin ISO RGD PMID:22885163 RGD:11041795 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Hs-e1 beta-globin HS-E1 embryonic enhancer ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 7:103,496,040...103,496,872 JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) IAGP OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		JBrowse link
G Or51b4 olfactory receptor family 51 subfamily B member 4 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 7:103,530,513...103,531,448
Ensembl chr 7:103,528,650...103,535,459 		JBrowse link
G Or51v8 olfactory receptor family 51 subfamily V member 8 ISO ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr 7:103,319,310...103,320,236
Ensembl chr 7:103,314,668...103,320,398 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tfr2 transferrin receptor 2 IEP
ISO 		mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr 5:137,568,127...137,586,344
Ensembl chr 5:137,568,102...137,585,743 		JBrowse link
G Tfrc transferrin receptor IEP
ISO 		mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
G Tnf tumor necrosis factor ISO DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnnt2 troponin T2, cardiac ISO ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 More... NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More...
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: 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...
G Pon1 paraoxonase 1 ISO protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		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 chr 5:77,122,548...77,147,782
Ensembl chr 5:77,122,530...77,147,784 		JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59b CD59b antigen ISO ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534 		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 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931 		JBrowse link
G Mdfic MyoD family inhibitor domain containing IAGP
ISO 		OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY 		MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168 		JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859 		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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human) 		ClinVar
CTD
RGD		 PMID:16098079 RGD:11081155 NCBI chr 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		JBrowse link
G Cdin1 CDAN1 interacting nuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:115,411,388...115,609,263
Ensembl chr 2:115,412,197...115,609,249 		JBrowse link
G Diaph3 diaphanous related formin 3 IAGP MouseDO NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr15:94,441,495...94,466,198
Ensembl chr15:94,441,524...94,479,696 		JBrowse link
G Kif23 kinesin family member 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Man2a1 mannosidase 2, alpha 1 IAGP OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr17:64,907,683...65,062,105
Ensembl chr17:64,907,731...65,062,105 		JBrowse link
G Sec23b SEC23 homolog B, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 		CTD
ClinVar		 PMID:19561605 PMID:24033266 PMID:25044164 PMID:25741868 PMID:28492532 NCBI chr 2:144,398,165...144,432,673
Ensembl chr 2:144,398,149...144,432,669 		JBrowse link
G Ube2q2 ubiquitin-conjugating enzyme E2Q family member 2 ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr 9:55,056,602...55,114,813
Ensembl chr 9:55,056,138...55,114,813 		JBrowse link
G Vps4a vacuolar protein sorting 4A ISO ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr 8:107,757,901...107,772,392
Ensembl chr 8:107,757,854...107,772,387 		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 chr 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		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
DNA:missense mutations, nonsense mutations:cds:multiple
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr 2:120,546,635...120,561,998
Ensembl chr 2:120,546,635...120,680,609 		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 chr 2:115,411,388...115,609,263
Ensembl chr 2:115,412,197...115,609,249 		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 chr 2:143,875,022...143,915,899
Ensembl chr 2:143,874,979...143,915,899 		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 chr 2:144,312,475...144,369,427
Ensembl chr 2:144,312,477...144,369,334 		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 chr 2:144,210,952...144,249,595
Ensembl chr 2:144,210,903...144,249,596 		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 chr 2:144,112,824...144,123,147
Ensembl chr 2:144,112,583...144,123,147 		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 chr 2:144,147,095...144,174,000
Ensembl chr 2:144,147,095...144,174,066 		JBrowse link
G Pet117 PET117 homolog ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 2:144,210,903...144,215,257
Ensembl chr 2:144,210,916...144,215,641 		JBrowse link
G Polr3f polymerase (RNA) III (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 2:144,369,665...144,383,699
Ensembl chr 2:144,369,638...144,383,915 		JBrowse link
G Rbbp9 retinoblastoma binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr 2:144,384,185...144,392,779
Ensembl chr 2:144,384,185...144,392,789 		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 chr 2:143,789,315...143,853,216
Ensembl chr 2:143,789,315...143,853,183 		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 chr 2:144,398,165...144,432,673
Ensembl chr 2:144,398,149...144,432,669 		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 chr 2:144,092,043...144,112,713
Ensembl chr 2:144,092,043...144,112,826 		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 chr 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		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 chr15:99,518,377...99,549,504
Ensembl chr15:99,518,377...99,549,537 		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-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) 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 chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		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 Kruppel-like transcription factor 1 (erythroid) 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 chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		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 chr17:84,965,602...84,990,439
Ensembl chr17:84,965,662...84,990,439 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr17:84,983,730...85,007,761
Ensembl chr17:84,983,730...85,007,761 		JBrowse link
G C3 complement component 3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:5316621 PMID:25741868 PMID:28492532 PMID:29300386 PMID:32641076 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO Severe GPI deficiency with neurologic deficits RGD PMID:9856489 PMID:8499925 RGD:1600632, RGD:1600631 NCBI chr 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761 		JBrowse link
G Gsr glutathione reductase ISO RGD PMID:947404 RGD:1600697 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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...
G Hbb-b2 hemoglobin, beta adult minor chain ISO congenital Heinz body anemia RGD PMID:2599881 PMID:1520632 RGD:1600889, RGD:1600886
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Plekhg3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr12:76,580,330...76,627,265
Ensembl chr12:76,577,665...76,627,262 		JBrowse link
G Rhd Rh blood group, D antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 4:134,591,875...134,623,483
Ensembl chr 4:134,591,847...134,623,483 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO
IMP 		DNA:missense mutations:cds:multiple (human) RGD PMID:16227998 PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		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 chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		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 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		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 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		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 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		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 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,977,152...27,978,916
Ensembl chr 7:27,977,164...27,978,914 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		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:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:32,834,640...32,876,617
Ensembl chr16:32,833,053...32,876,588 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		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 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		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 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr11:97,912,829...97,921,319
Ensembl chr11:97,917,536...97,921,318 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr11:68,792,392...68,795,360
Ensembl chr11:68,792,409...68,797,815 		JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559 		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 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chr17:27,849,389...27,854,218
Ensembl chr17:27,849,392...27,855,643 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		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 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		JBrowse link
Congenital Methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A (microsomal) ISO protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple 		RGD PMID:7451647 PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996 		JBrowse link
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 chr15:83,037,696...83,060,641
Ensembl chr15:83,037,695...83,056,793 		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 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human)
CTD Direct Evidence: marker/mechanism
DNA:point mutations: :1376G>T, 1502T>G (human) 		CTD
RGD		 PMID:4125296 PMID:10666231 PMID:1999409 PMID:24923766 RGD:1599812, RGD:10449107 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO
IAGP
IMP 		OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470
DNA:mutations:cds: 		MouseDO
RGD		 PMID:17041899 PMID:8417789 PMID:9446754 RGD:1600633, RGD:11051955, RGD:11051849 NCBI chr 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608
G Hk1 hexokinase 1 ISO
IAGP 		DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte 		RGD PMID:7655856 PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Nt5c3 5'-nucleotidase, cytosolic III ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 6:56,859,385...56,900,993
Ensembl chr 6:56,859,385...56,900,917 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO DNA:missense mutations:cds:p.A468V, p.I314T (human)
DNA:snp:promoter:g.-72A>G (human)
DNA:missense mutation:cds:p.R479H (human)
DNA:missense mutations:cds:p.T384M, p.Q421K (human) 		RGD PMID:7949104 PMID:11054094 PMID:8161798 PMID:1536957 RGD:11535979, RGD:11535987, RGD:11535983, RGD:11535981 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		JBrowse link
congenital nonspherocytic hemolytic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked 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:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase 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:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		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 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 chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		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 K+ 3 ISO ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar PMID:25741868 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO
IAGP
IMP 		ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
CTD Direct Evidence: marker/mechanism
OMIM:266200
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human)
human gene complementing mouse knockout 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... RGD:11537470, RGD:11537382, RGD:11535996 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency 		OMIM
CTD
ClinVar		 PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070 		JBrowse link
congenital nonspherocytic hemolytic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi1 glucose-6-phosphate isomerase 1 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 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761 		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 chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		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 chr 2:155,405,101...155,434,730
Ensembl chr 2:155,405,101...155,434,730 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency 		CTD
OMIM
ClinVar		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767 		JBrowse link
congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5c3 5'-nucleotidase, cytosolic III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to 		OMIM
CTD
ClinVar		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr 6:56,859,385...56,900,993
Ensembl chr 6:56,859,385...56,900,917 		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:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DESICCYTOSIS GARDOS 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		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 intermediate/small conductance 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 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium intermediate/small conductance 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 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		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, alpha 2 subunit ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,142,093...141,212,924
Ensembl chr 7:141,142,086...141,212,924 		JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,750,913...101,771,410
Ensembl chr 7:101,750,950...101,763,140 		JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,746,086...101,752,052
Ensembl chr 7:101,746,086...101,758,696 		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 chr 7:142,520,559...142,523,001
Ensembl chr 7:142,520,566...142,523,001 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,503,488...141,557,981
Ensembl chr 7:141,503,488...141,557,984 		JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,110,967...143,153,827
Ensembl chr 7:143,110,967...143,153,827 		JBrowse link
G Cd151 CD151 antigen ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386 		JBrowse link
G Cd81 CD81 antigen ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,848,993...140,856,708
Ensembl chr 7:140,848,996...140,856,699 		JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787 		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 chr 7:141,006,359...141,009,475
Ensembl chr 7:141,006,359...141,009,404 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,073,049...141,119,818
Ensembl chr 7:141,073,049...141,119,770 		JBrowse link
G Chrna10 cholinergic receptor, nicotinic, alpha polypeptide 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,760,469...101,766,564
Ensembl chr 7:101,760,473...101,766,035 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,041,007...141,046,526
Ensembl chr 7:141,041,007...141,046,526 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,929,647...141,941,564
Ensembl chr 7:141,929,648...141,941,775 		JBrowse link
G Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,871,931...140,874,868
Ensembl chr 7:140,871,919...140,876,377 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,633,224...141,649,799
Ensembl chr 7:141,633,227...141,649,580 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933 		JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,988,097...140,994,038
Ensembl chr 7:140,987,707...140,994,049 		JBrowse link
G Gm23297 predicted gene, 23297 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,085,131...143,085,257
Ensembl chr 7:143,085,131...143,085,257 		JBrowse link
G Gm4553 predicted gene 4553 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,718,433...141,719,488
Ensembl chr 7:141,718,433...141,719,476 		JBrowse link
G H19 H19, imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,133,957 		JBrowse link
G Hbb-3'hs1 beta-globin 3' hypersensitive site 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,442,107...103,443,110 JBrowse link
G Hbb-ar hemoglobin, activating region ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,501,973...103,526,752 JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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...
G Hbb-bh1 hemoglobin Z, beta-like embryonic chain ISO ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Sardinian HPFH | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta OMIM
ClinVar		 PMID:291015 PMID:808940 PMID:811241 PMID:939551 PMID:1373683 More... NCBI chr 7:103,490,845...103,492,369
Ensembl chr 7:103,490,844...103,492,371 		JBrowse link
G Hbb-y hemoglobin Y, beta-like embryonic chain ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,500,961...103,502,414
Ensembl chr 7:103,500,956...103,502,423 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hs-e1 beta-globin HS-E1 embryonic enhancer ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,496,040...103,496,872 JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,879,572...141,927,526
Ensembl chr 7:141,879,574...141,927,490 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2os insulin-like growth factor 2, opposite strand ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,213,417...142,224,093
Ensembl chr 7:142,213,430...142,224,093 		JBrowse link
G Ins1 insulin I ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		JBrowse link
G Ins2 insulin II ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,843,096...140,846,412
Ensembl chr 7:140,842,619...140,846,394 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Kcnq1ot1 KCNQ1 overlapping transcript 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,766,848...142,850,284
Ensembl chr 7:142,731,402...142,850,327 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,850,114...141,850,871
Ensembl chr 7:141,850,114...141,850,855 		JBrowse link
G Krtap5-2 keratin associated protein 5-2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,728,269...141,729,742
Ensembl chr 7:141,728,272...141,729,742 		JBrowse link
G Krtap5-5 keratin associated protein 5-5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,782,532...141,783,708
Ensembl chr 7:141,782,532...141,783,708 		JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,789,903...140,795,617
Ensembl chr 7:140,789,905...140,793,993 		JBrowse link
G LOC105311846 H19/Igf2 enhancer region ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,101,653...142,127,649 JBrowse link
G LOC106804094 nonconserved acetylation island sequence M93 enhancer ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,615,151...142,617,494 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Lsp1 lymphocyte specific 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,014,583...142,048,605
Ensembl chr 7:142,014,546...142,048,604 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406 		JBrowse link
G Mir483 microRNA 483 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,208,661...142,208,733
Ensembl chr 7:142,208,661...142,208,733 		JBrowse link
G Mir675 microRNA 675 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,130,801...142,130,884
Ensembl chr 7:142,130,801...142,130,884 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,562,254...141,614,796
Ensembl chr 7:141,562,272...141,614,802 		JBrowse link
G Mrgpre MAS-related GPR, member E ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,332,100...143,338,237
Ensembl chr 7:143,332,100...143,338,237 		JBrowse link
G Mrgprg MAS-related GPR, member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,317,447...143,320,730
Ensembl chr 7:143,317,447...143,320,730 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,086,423...142,094,484
Ensembl chr 7:142,086,423...142,094,484 		JBrowse link
G Muc2 mucin 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Muc6 mucin 6, gastric ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641 		JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,067,316...143,103,698
Ensembl chr 7:143,067,316...143,102,843 		JBrowse link
G Nup98 nucleoporin 98 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383 		JBrowse link
G Or51a5 olfactory receptor family 51 subfamily A member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,771,036...102,771,989
Ensembl chr 7:102,767,610...102,774,845 		JBrowse link
G Or51a7 olfactory receptor family 51 subfamily A member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,614,309...102,615,247
Ensembl chr 7:102,611,867...102,624,367 		JBrowse link
G Or51a8 olfactory receptor family 51 subfamily A member 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,549,549...102,550,593
Ensembl chr 7:102,543,784...102,550,917 		JBrowse link
G Or51d1 olfactory receptor family 51 subfamily D member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,347,423...102,348,479
Ensembl chr 7:102,345,117...102,349,914 		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 chr 7:102,351,530...102,361,261
Ensembl chr 7:102,351,422...102,361,271 		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 chr 7:102,389,928...102,408,678
Ensembl chr 7:102,387,718...102,408,678 		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 chr 7:102,505,528...102,507,972
Ensembl chr 7:102,504,544...102,507,972 		JBrowse link
G Or51f2 olfactory receptor family 51 subfamily F member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,526,329...102,527,270
Ensembl chr 7:102,526,329...102,527,270 		JBrowse link
G Or51f23b olfactory receptor family 51 subfamily F member 23B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,402,190...102,403,134
Ensembl chr 7:102,401,025...102,408,573 		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 chr 7:102,633,428...102,634,369
Ensembl chr 7:102,630,815...102,638,531 		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 chr 7:102,622,259...102,623,197
Ensembl chr 7:102,620,387...102,625,150 		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 chr 7:102,783,583...102,784,530
Ensembl chr 7:102,783,583...102,784,530 		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 chr 7:102,558,076...102,559,044
Ensembl chr 7:102,554,297...102,566,743 		JBrowse link
G Or51t4 olfactory receptor family 51 subfamily T member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,597,674...102,598,714
Ensembl chr 7:102,597,674...102,598,714 		JBrowse link
G Or51v8 olfactory receptor family 51 subfamily V member 8 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,319,310...103,320,236
Ensembl chr 7:103,314,668...103,320,398 		JBrowse link
G Or52a5 olfactory receptor family 52 subfamily A member 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,426,603...103,427,550
Ensembl chr 7:103,423,565...103,428,905 		JBrowse link
G Or52a5b olfactory receptor family 52 subfamily A member 5B ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:103,416,484...103,420,801
Ensembl chr 7:103,415,012...103,420,801 		JBrowse link
G Or52b4 olfactory receptor family 52 subfamily B member 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,183,956...102,184,895
Ensembl chr 7:102,183,956...102,184,891 		JBrowse link
G Or52e19 olfactory receptor family 52 subfamily E member 19 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,958,930...102,959,868
Ensembl chr 7:102,954,855...102,961,989 		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 chr 7:102,803,999...102,804,952
Ensembl chr 7:102,803,999...102,805,563 		JBrowse link
G Or52i2 olfactory receptor family 52 subfamily J member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,319,108...102,320,130
Ensembl chr 7:102,314,106...102,322,477 		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 chr 7:102,835,810...102,836,748
Ensembl chr 7:102,834,010...102,842,172 		JBrowse link
G Or52k2 olfactory receptor family 52 subfamily K member 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,253,563...102,254,516
Ensembl chr 7:102,246,977...102,257,332 		JBrowse link
G Or52m1 olfactory receptor family 52 subfamily M member 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,289,455...102,290,408
Ensembl chr 7:102,287,639...102,291,762 		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 chr 7:102,536,414...102,537,358
Ensembl chr 7:102,532,916...102,540,089 		JBrowse link
G Osbpl5 oxysterol binding protein-like 5 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,242,499...143,310,745
Ensembl chr 7:143,242,499...143,310,722 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,859,153...101,887,771
Ensembl chr 7:101,859,415...101,887,774 		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 NCBI chr 7:143,055,282...143,056,882
Ensembl chr 7:143,055,282...143,056,887 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,808,373...140,842,664
Ensembl chr 7:140,808,697...140,842,663 		JBrowse link
G Pidd1 p53 induced death domain protein 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,018,026...141,027,477
Ensembl chr 7:141,018,026...141,023,938 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,035,101...141,040,656
Ensembl chr 7:141,035,111...141,040,656 		JBrowse link
G Polr2l polymerase (RNA) II (DNA directed) polypeptide L ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,051,773...141,055,066
Ensembl chr 7:141,051,773...141,055,045 		JBrowse link
G Prr33 proline rich 33 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,044,808...142,060,508
Ensembl chr 7:142,044,811...142,060,508 		JBrowse link
G Rassf7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,795,338...140,798,571
Ensembl chr 7:140,795,773...140,798,571 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,888,330...101,899,325
Ensembl chr 7:101,888,330...101,905,261 		JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,740,239...140,752,764
Ensembl chr 7:140,740,239...140,752,770 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,027,564...141,031,272
Ensembl chr 7:141,027,283...141,031,498 		JBrowse link
G Rrm1 ribonucleotide reductase M1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,090,902...102,118,978
Ensembl chr 7:102,090,902...102,118,978 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,858,243...140,859,082
Ensembl chr 7:140,858,243...140,859,046 		JBrowse link
G Slc22a18 solute carrier family 22 (organic cation transporter), member 18 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:143,027,502...143,053,071
Ensembl chr 7:143,027,473...143,053,071 		JBrowse link
G Slc25a22 solute carrier family 25 (mitochondrial carrier, glutamate), member 22 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805 		JBrowse link
G Snora52 small nucleolar RNA, H/ACA box 52 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,028,716...141,028,849
Ensembl chr 7:141,028,716...141,028,852 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
G Syt8 synaptotagmin VIII ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,988,195...141,994,136
Ensembl chr 7:141,988,587...141,994,133 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,972,073...140,982,889
Ensembl chr 7:140,972,112...140,982,881 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:140,908,046...140,917,069
Ensembl chr 7:140,907,652...140,917,069 		JBrowse link
G Tnni2 troponin I, skeletal, fast 2 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,995,553...141,998,147
Ensembl chr 7:141,995,545...141,998,147 		JBrowse link
G Tnnt3 troponin T3, skeletal, fast ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,052,530...142,069,746
Ensembl chr 7:142,052,573...142,069,746 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,435,317...141,456,198
Ensembl chr 7:141,428,550...141,472,244 		JBrowse link
G Trim21 tripartite motif-containing 21 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,207,127...102,214,689
Ensembl chr 7:102,207,128...102,214,693 		JBrowse link
G Trim68 tripartite motif-containing 68 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:102,326,786...102,336,536
Ensembl chr 7:102,326,789...102,336,534 		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 chr 7:142,625,266...142,648,379
Ensembl chr 7:142,622,890...142,648,379 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,558,644...142,573,223
Ensembl chr 7:142,558,783...142,573,381 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:141,055,194...141,073,340
Ensembl chr 7:141,055,153...141,073,340 		JBrowse link
G Tssc4 tumor-suppressing subchromosomal transferable fragment 4 ISO ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr 7:142,621,049...142,624,830
Ensembl chr 7:142,622,986...142,624,830 		JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700028K03Rik RIKEN cDNA 1700028K03 gene ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,682,586...107,699,415
Ensembl chr 5:107,655,487...107,728,462
Ensembl chr 5:107,655,487...107,728,462 		JBrowse link
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524 		JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611 		JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251 		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 chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618 		JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,074,711...69,088,669
Ensembl chr11:69,074,758...69,088,669 		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 chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019 		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 chr11:68,819,726...68,847,760
Ensembl chr11:68,833,981...68,848,306 		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 4:135,933,662...135,973,888
Ensembl chr 4:135,933,676...135,972,527 		JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		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 chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		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 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525 		JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983 		JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569 		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 chr11:68,950,601...68,952,402
Ensembl chr11:68,950,543...68,952,404 		JBrowse link
G Brdt bromodomain, testis-specific ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,478,982...107,534,927
Ensembl chr 5:107,479,025...107,534,924 		JBrowse link
G Btbd8 BTB domain containing 8 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,585,796...107,660,426
Ensembl chr 5:107,585,863...107,659,073 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,112,201...107,132,298
Ensembl chr 5:107,112,188...107,132,298 		JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082 		JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630 		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 chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149 		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 4:135,622,500...135,647,530
Ensembl chr 4:135,622,705...135,647,518 		JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,188,735...69,214,720
Ensembl chr11:69,190,313...69,214,601 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Ctc1 CTS telomere maintenance 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 chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		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 chr11:69,281,756...69,287,005
Ensembl chr11:69,282,751...69,286,457 		JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049 		JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085 		JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338 		JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040 		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 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663 		JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976 		JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076 		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 chr11:69,311,635...69,439,934
Ensembl chr11:69,311,635...69,439,936 		JBrowse link
G Dyrk1b dual-specificity tyrosine phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		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 4:135,899,585...135,923,368
Ensembl chr 4:135,899,705...135,923,368 		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 chr11:69,444,918...69,452,428
Ensembl chr11:69,444,918...69,451,031 		JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,977,152...27,978,916
Ensembl chr 7:27,977,164...27,978,914 		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 4:135,730,681...135,748,960
Ensembl chr 4:135,730,679...135,749,074 		JBrowse link
G Ephx4 epoxide hydrolase 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,551,379...107,577,901
Ensembl chr 5:107,550,602...107,577,901 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317 		JBrowse link
G Evi5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,892,661...108,022,973
Ensembl chr 5:107,892,661...108,022,973 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694 		JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287 		JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 IAGP 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 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Fuca1 fucosidase, alpha-L- 1, tissue ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,648,037...135,667,611
Ensembl chr 4:135,648,046...135,667,622 		JBrowse link
G Gale galactose-4-epimerase, UDP ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,690,550...135,695,489
Ensembl chr 4:135,691,038...135,695,489 		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:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		JBrowse link
G Gfi1 growth factor independent 1 transcription repressor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902 		JBrowse link
G Gh growth hormone treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754 		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:7,870,440...7,884,731
Ensembl chr  X:7,870,439...7,884,731 		JBrowse link
G Gm10362 predicted gene 10362 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr15:73,300,172...73,300,773
Ensembl chr15:73,300,208...73,300,759 		JBrowse link
G Gm22442 predicted gene, 22442 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,241,344...69,241,487
Ensembl chr11:69,241,344...69,241,487 		JBrowse link
G Gm26387 predicted gene, 26387 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 5:108,055,211...108,055,342
Ensembl chr 5:108,055,211...108,055,342 		JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 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 4:135,269,199...135,300,943
Ensembl chr 4:135,269,199...135,300,941 		JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		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 chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Hfm1 HFM1, ATP-dependent DNA helicase homolog ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:106,988,059...107,074,427
Ensembl chr 5:106,988,058...107,074,187 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,673,776...135,689,926
Ensembl chr 4:135,673,759...135,689,928 		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 4:136,038,230...136,086,758
Ensembl chr 4:136,038,253...136,086,758 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182 		JBrowse link
G Htr1d 5-hydroxytryptamine (serotonin) receptor 1D ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:136,150,835...136,171,716
Ensembl chr 4:136,150,835...136,171,709 		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 4:135,871,133...135,872,703
Ensembl chr 4:135,870,808...135,873,066 		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 4:135,413,513...135,435,492
Ensembl chr 4:135,413,598...135,435,492 		JBrowse link
G Il22ra1 interleukin 22 receptor, alpha 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,455,470...135,482,694
Ensembl chr 4:135,455,483...135,479,451 		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 chr16:32,834,640...32,876,617
Ensembl chr16:32,833,053...32,876,588 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Kcnab3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,217,084...69,223,867
Ensembl chr11:69,217,084...69,223,868 		JBrowse link
G Kdm1a lysine (K)-specific demethylase 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034 		JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135 		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 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117 		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 4:136,189,892...136,282,036
Ensembl chr 4:136,197,072...136,282,091 		JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366 		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 4:135,695,541...135,700,954
Ensembl chr 4:135,695,535...135,699,937 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023 		JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582 		JBrowse link
G Myom3 myomesin family, member 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,486,688...135,542,882
Ensembl chr 4:135,487,026...135,542,875 		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 chr11:69,286,617...69,287,497
Ensembl chr11:69,286,313...69,287,506 		JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569 		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 chr11:68,812,661...68,817,907
Ensembl chr11:68,812,661...68,817,907 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		JBrowse link
G Per1 period circadian clock 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286 		JBrowse link
G Pithd1 PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,702,913...135,714,555
Ensembl chr 4:135,702,771...135,714,575 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Pnrc2 proline-rich nuclear receptor coactivator 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,598,229...135,601,157
Ensembl chr 4:135,598,229...135,601,161 		JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321 		JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179 		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 chr11:68,863,310...68,866,011
Ensembl chr11:68,863,310...68,866,011 		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... NCBI chr11:69,231,282...69,233,467
Ensembl chr11:69,231,287...69,233,467 		JBrowse link
G Rpap2 RNA polymerase II associated protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,745,239...107,809,719
Ensembl chr 5:107,745,239...107,809,704 		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 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739 		JBrowse link
G Rpl17 ribosomal protein L17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr18:75,132,049...75,136,455
Ensembl chr18:75,131,629...75,136,452 		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 chr11:97,912,829...97,921,319
Ensembl chr11:97,917,536...97,921,318 		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 chr11:68,792,392...68,795,360
Ensembl chr11:68,792,409...68,797,815 		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 chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559 		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 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Rpl9 ribosomal protein L9 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 5:65,545,707...65,548,774
Ensembl chr 5:65,545,707...65,548,787 		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 chr17:27,849,389...27,854,218
Ensembl chr17:27,849,392...27,855,643 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580 		JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 		CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr 7:80,992,481...80,994,982
Ensembl chr 7:80,992,480...80,995,002 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... RGD:1599572, RGD:1599571 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 4:3,831,334...3,835,600
Ensembl chr 4:3,831,334...3,835,665 		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 chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		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 chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		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 chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
G Rpsa ribosomal protein SA IAGP 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 9:119,956,832...119,961,435
Ensembl chr 9:119,956,755...119,961,435 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611 		JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789 		JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444 		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 chr11:68,858,954...68,863,342
Ensembl chr11:68,858,957...68,865,191 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:68,964,252...68,964,388
Ensembl chr11:68,964,253...68,964,387 		JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:108,052,421...108,052,514
Ensembl chr 5:108,052,421...108,052,514 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		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 4:135,582,454...135,597,219
Ensembl chr 4:135,583,058...135,597,219 		JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		JBrowse link
G Tcea3 transcription elongation factor A (SII), 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:135,975,253...136,002,214
Ensembl chr 4:135,975,040...136,002,209 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tgfbr3 transforming growth factor, beta receptor III ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 5:107,254,433...107,437,495
Ensembl chr 5:107,254,436...107,437,495 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497 		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 chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620 		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 chr11:69,287,342...69,289,060
Ensembl chr11:69,287,345...69,289,060 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591 		JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,214,812...69,216,619
Ensembl chr11:69,214,806...69,216,619 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771 		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 chr11:68,979,354...68,983,207
Ensembl chr11:68,979,316...68,983,210 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163 		JBrowse link
G Zfp46 zinc finger protein 46 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:136,011,479...136,021,163
Ensembl chr 4:136,011,994...136,021,253 		JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932 		JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917 		JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250 		JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596 		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 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		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 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		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 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		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 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		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 chr10:128,466,708...128,505,668
Ensembl chr10:128,466,712...128,505,227 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		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 chr10:128,505,756...128,509,787
Ensembl chr10:128,505,763...128,509,942 		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 chr11:68,792,392...68,795,360
Ensembl chr11:68,792,409...68,797,815 		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 protein 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 chr14:4,185,693...4,198,560
Ensembl chr14:4,185,693...4,198,560 		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 chr14:4,198,710...4,201,873
Ensembl chr14:4,198,305...4,201,873 		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 chr12:69,204,495...69,205,891
Ensembl chr12:69,204,496...69,205,960 		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:149,829,141...149,872,682
Ensembl chr  X:149,829,146...149,872,517 		JBrowse link
G Tsr2 TSR2 20S rRNA accumulation 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:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		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 chr10:128,460,398...128,462,375
Ensembl chr10:128,460,403...128,462,616 		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 chr17:34,042,010...34,043,536
Ensembl chr17:34,038,001...34,043,536 		JBrowse link
G Tsr2 TSR2 20S rRNA accumulation ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:149,870,090...149,879,539
Ensembl chr  X:149,870,090...149,879,539 		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 chr11:101,333,071...101,336,422
Ensembl chr11:101,333,124...101,336,355 		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 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958 		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 7:45,364,891...45,370,255
Ensembl chr 7:45,364,881...45,370,260 		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 2:38,891,593...38,895,143
Ensembl chr 2:38,891,592...38,895,636 		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 ClinVar
OMIM		 PMID:27909223 NCBI chr 7:117,703,597...117,715,370
Ensembl chr 7:117,703,595...117,715,411 		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 8:88,864,453...88,901,656
Ensembl chr 8:88,864,483...88,898,655 		JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr14:24,540,786...24,545,925
Ensembl chr14:24,537,193...24,547,027 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 		OMIM
CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr 7:80,992,481...80,994,982
Ensembl chr 7:80,992,480...80,995,002 		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 chr16:32,697,762...32,729,333
Ensembl chr16:32,697,870...32,729,245 		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 chr16:32,834,640...32,876,617
Ensembl chr16:32,833,053...32,876,588 		JBrowse link
G Lrch3 leucine-rich repeats and calponin homology (CH) 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 chr16:32,734,452...32,836,399
Ensembl chr16:32,734,470...32,836,017 		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
CTD Direct Evidence: marker/mechanism
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535072, RGD:11535069 NCBI chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559 		JBrowse link
G Rubcn RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr16:32,642,072...32,698,121
Ensembl chr16:32,642,073...32,698,136 		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 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		JBrowse link
G Rpl5 ribosomal protein L5 ISO
IAGP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
OMIM:612561
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snps, duplication, deletions:exons:multiple (human) 		OMIM
ClinVar
MouseDO
RGD		 PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		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
IAGP
IMP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
CTD Direct Evidence: marker/mechanism
OMIM:612562
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739 		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 chr12:28,725,206...28,732,174
Ensembl chr12:28,725,230...28,732,174 		JBrowse link
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376 		JBrowse link
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,699,600...28,709,591
Ensembl chr12:28,699,601...28,709,588 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
G Trappc12 trafficking protein particle complex 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,740,619...28,801,746
Ensembl chr12:28,740,627...28,800,471 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 More... NCBI chr17:27,849,389...27,854,218
Ensembl chr17:27,849,392...27,855,643 		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 ClinVar
OMIM		 PMID:28283061 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		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 chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		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 1b, alpha polypeptide ISO associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		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 chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		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 chr 9:74,017,608...74,190,485
Ensembl chr 9:74,017,638...74,190,590 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr 4:131,650,724...131,802,824
Ensembl chr 4:131,650,724...131,802,632 		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 chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
Elliptocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 OMIM
ClinVar		 PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 More... NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		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 chr 1:44,158,032...44,183,931
Ensembl chr 1:44,158,117...44,183,930 		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 chr 1:44,095,031...44,118,906
Ensembl chr 1:44,095,032...44,118,906 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		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 chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		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 chr 1:44,048,559...44,081,745
Ensembl chr 1:44,048,568...44,059,194 		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 chr 1:44,143,060...44,158,844
Ensembl chr 1:44,145,706...44,157,968 		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 chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351 		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 chr 1:44,125,773...44,141,650
Ensembl chr 1:44,125,773...44,141,601 		JBrowse link
G Tpp2 tripeptidyl peptidase II 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 chr 1:43,973,130...44,042,160
Ensembl chr 1:43,972,807...44,042,160 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
DNA:mutation:cds:c.412G>A (p.E138K)(human) 		OMIM
CTD
ClinVar
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 2:152,596,093...152,606,957
Ensembl chr 2:152,596,093...152,606,957 		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:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aopep aminopeptidase O 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 PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Ap1s2 adaptor-related protein complex 1, sigma 2 subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		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:163,219,976...163,242,166
Ensembl chr  X:163,219,990...163,242,166 		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:163,280,899...163,322,748
Ensembl chr  X:163,289,323...163,322,748 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,975,838...163,041,189
Ensembl chr  X:162,975,838...163,041,189 		JBrowse link
G Brca2 breast cancer 2, early onset susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia 		ClinVar
RGD		 PMID:9536098 PMID:11030417 PMID:11185744 PMID:11430722 PMID:12228710 More... RGD:734658 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		CTD
ClinVar		 PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643 		JBrowse link
G Car5b carbonic anhydrase 5b, mitochondrial ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,759,818...162,811,006
Ensembl chr  X:162,759,818...162,810,993 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136 		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 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,873,183...162,901,855
Ensembl chr  X:162,871,826...162,901,856 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 8:124,231,744...124,245,535
Ensembl chr 8:124,231,457...124,242,202 		JBrowse link
G Def8 differentially expressed in FDCP 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 8:124,169,725...124,190,009
Ensembl chr 8:124,150,266...124,190,009 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A disease_progression ISO DNA:missense mutations, splice-site mutations:exon, intron:multiple
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
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple 		ClinVar
CTD
RGD		 PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:6720839 More... RGD:11344899, RGD:11344919, RGD:11344914 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancb Fanconi anemia, 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:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, complementation group C onset ISO DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(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
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human) 		ClinVar
CTD
RGD		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907, RGD:11344914 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 More... RGD:11344904, RGD:1601137 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		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 chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Fance Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11001585 PMID:17308347 PMID:17924555 PMID:22778927 PMID:24728327 More... NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		JBrowse link
G Fancf Fanconi anemia, 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 chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		CTD
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO DNA:mutations: :multiple
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 anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar
RGD		 PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... RGD:11344925 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fkbp3 FK506 binding protein 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,109,206...65,120,712
Ensembl chr12:65,109,198...65,120,781 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		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 chr12:64,518,107...64,521,672
Ensembl chr12:64,518,104...64,521,464 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr 8:124,245,630...124,263,394
Ensembl chr 8:124,245,573...124,263,389 		JBrowse link
G Gm527 predicted gene 527 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,964,685...64,971,365
Ensembl chr12:64,964,680...64,971,366 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308 		JBrowse link
G Klhl28 kelch-like 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,985,603...65,012,365
Ensembl chr12:64,985,607...65,012,308 		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 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,719,165...163,763,501
Ensembl chr  X:163,719,165...163,763,371 		JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161 		JBrowse link
G Mx1 MX dynamin-like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107 		JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478 		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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,202,814...163,216,912
Ensembl chr  X:163,202,783...163,216,912 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,052,427...163,156,009
Ensembl chr  X:163,052,367...163,156,007 		JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO RGD PMID:21542827 RGD:6482802 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		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 chr12:65,083,094...65,110,160
Ensembl chr12:65,083,107...65,110,160 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		CTD
ClinVar		 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472 		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 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		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 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254 		JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		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 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 IAGP MouseDO NCBI chr 4:98,812,047...98,823,780
Ensembl chr 4:98,812,047...98,823,780 		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 chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,156,282...163,185,643
Ensembl chr  X:163,156,374...163,185,646 		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 chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 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 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990 		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:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		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 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		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 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A IAGP
ISO 		OMIM:227650
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A 		MouseDO
ClinVar
OMIM		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:6720839 More... NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, 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 chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancd2 Fanconi anemia, 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 chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		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 chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, 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 chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, 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 chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) 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 chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Vrk2 vaccinia related 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 chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 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 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		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 Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 More... NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		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 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 chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO
IAGP 		ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C
OMIM:227645 		OMIM
ClinVar
MouseDO		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		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 breast cancer 2, early onset IAGP
ISO 		OMIM:605724
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
OMIM
CTD		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		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 protein C-terminal 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 chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO
IAGP 		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2
OMIM:227646 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		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 chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026 		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 chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 Fanconi anemia, 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 chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		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 Fanconi anemia, 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 chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		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 Fanconi anemia, 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 chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		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 chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... RGD:11344924 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		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 protein C-terminal helicase 1 susceptibility ISO DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by term: Fanconi anemia complementation group J
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... RGD:11251781 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		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 Fanconi anemia, 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 chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Vrk2 vaccinia related 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 chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		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 Fanconi anemia, 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 chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group N 		CTD
ClinVar
OMIM		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		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 family member 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,507,225...87,550,715
Ensembl chr11:87,507,990...87,550,368 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,482,769...87,507,128
Ensembl chr11:87,482,988...87,507,128 		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 chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,457,515...87,481,365
Ensembl chr11:87,457,479...87,481,365 		JBrowse link
G Tex14 testis expressed gene 14 intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,295,839...87,446,649
Ensembl chr11:87,295,891...87,446,649 		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 homolog (S. cerevisiae) 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 chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		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 excision repair cross-complementing rodent repair deficiency, complementation group 4 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 chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		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 chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926 		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 breast cancer 1, early onset 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 chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		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 chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		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 1:134,911,038...135,033,112
Ensembl chr 1:134,911,039...135,033,014 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr 1:134,890,303...134,901,918
Ensembl chr 1:134,890,303...134,901,900 		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 complementing defective repair in Chinese hamster cells 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 chr 5:25,894,812...25,910,795
Ensembl chr 5:25,894,810...25,910,823 		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 MAD2 mitotic arrest deficient-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 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156 		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 8:111,997,576...112,026,854
Ensembl chr 8:111,997,576...112,026,854 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP-binding cassette, sub-family 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:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		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:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476 		JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal 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:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		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:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108 		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:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		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:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		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:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607 		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 chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		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:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190 		JBrowse link
G Ctag2l2 CTAG2 like 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:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin 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:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		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:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943 		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:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120 		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:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		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:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		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:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878 		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:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755 		JBrowse link
G Flna filamin, alpha 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:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		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:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD 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 		CTD
ClinVar
MouseDO		 PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:835572 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gab3 growth factor receptor bound protein 2-associated 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:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064 		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:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		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:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650 		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:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Idh3g isocitrate dehydrogenase 3 (NAD+), 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:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503 		JBrowse link
G Ikbkg inhibitor of kappaB kinase 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:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		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:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		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:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		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:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G Magea5 MAGE family member A5 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,836,057...153,846,147
Ensembl chr  X:153,836,057...153,846,141 		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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		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:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194 		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:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) 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:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		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:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		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:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295 		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:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120 		JBrowse link
G Pnck pregnancy upregulated non-ubiquitously expressed CaM kinase ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723 		JBrowse link
G Pnma3 paraneoplastic antigen MA3 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:72,108,393...72,111,797
Ensembl chr  X:72,108,393...72,111,797 		JBrowse link
G Pnma5 paraneoplastic antigen family 5 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:72,077,587...72,083,315
Ensembl chr  X:72,077,587...72,080,709 		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:72,438,793...72,442,418
Ensembl chr  X:72,440,045...72,442,342 		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:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		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:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		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:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741 		JBrowse link
G Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter 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:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955 		JBrowse link
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), 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:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108 		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:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Srpk3 serine/arginine-rich protein specific 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:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531 		JBrowse link
G Ssr4 signal sequence receptor, delta 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:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436 		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:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		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:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		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:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		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:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950 		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:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824 		JBrowse link
G Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548 		JBrowse link
G Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:72,030,860...72,075,149
Ensembl chr  X:72,030,945...72,075,149 		JBrowse link
G Zfp92 zinc finger protein 92 ISO ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:72,454,555...72,473,980
Ensembl chr  X:72,454,702...72,471,991 		JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:5448 PMID:16832 PMID:472761 PMID:736032 PMID:848857 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ifng interferon gamma ISO DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: G6PD deficiency ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Il10 interleukin 10 no_association ISO DNA:SNP:promoter:-592A>C (human)
DNA:SNPs:promoter:-1082G>A, -819T>C (human) 		RGD PMID:15718915 PMID:15718915 RGD:11049178, RGD:11049178 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glutathione peroxidase deficiency 		OMIM
CTD
ClinVar		 PMID:10220143 PMID:25741868 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hagh hydroxyacyl glutathione hydrolase ISO OMIM NCBI chr17:25,056,863...25,083,424
Ensembl chr17:25,059,117...25,083,424 		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
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:181,642,880...181,669,933
Ensembl chr 1:181,642,900...181,670,611 		JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione reductase treatment ISO RGD PMID:20692194 RGD:11059501 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Heinz body anemia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:13856 PMID:620088 PMID:1155453 PMID:1281602 PMID:1581238 More... NCBI chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More...
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency 		CTD
OMIM
ClinVar		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More...
G Hbb-b2 hemoglobin, beta adult minor chain ISO RGD PMID:2239966 RGD:1600890
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More...
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More...
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 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 chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 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 chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More...
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More...
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 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 chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 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 chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain severity ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar
RGD		 PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... RGD:10449038
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 chr 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:3136561 RGD:11100010 NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991 		JBrowse link
G Ak1 adenylate kinase 1 ISO RGD PMID:10233365 RGD:1300279 NCBI chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Ank1 ankyrin 1, erythroid ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr 5:143,803,586...143,839,535
Ensembl chr 5:143,803,543...143,841,069 		JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 IMP RGD PMID:9927493 RGD:11252099 NCBI chr 4:131,650,724...131,802,824
Ensembl chr 4:131,650,724...131,802,632 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO RGD PMID:15982355 RGD:11040945 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:2502894 PMID:4794122 PMID:8562390 PMID:12064901 PMID:25741868 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:10515893 PMID:10733484 RGD:11049537 NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767 		JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 IAGP
ISO 		DNA:polymorphism:cds:p.G368R(human)
ClinVar Annotator: match by term: Hemolytic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8822954 PMID:32581362 PMID:22930244 RGD:11051847 NCBI chr 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761 		JBrowse link
G Gsr glutathione reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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...
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hp haptoglobin ISO associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Ifna2 interferon alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11010742 PMID:15293138 PMID:16633111 NCBI chr 4:88,601,444...88,602,016
Ensembl chr 4:88,601,118...88,602,149 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) treatment ISO associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
CTD Direct Evidence: therapeutic
associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human) 		CTD
RGD		 PMID:20547162 PMID:21274861 PMID:23933495 RGD:10766472, RGD:10766479 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO RGD PMID:16740138 RGD:1599123 NCBI chr  X:105,230,706...105,247,305
Ensembl chr  X:105,230,706...105,247,305 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:9827908 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Rhag Rhesus blood group-associated A glycoprotein ISO Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr17:41,121,990...41,154,985
Ensembl chr17:41,122,017...41,151,645 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 More... NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IMP RGD PMID:11304553 RGD:11035277 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		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 chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:9005995 PMID:25741868 NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		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:37,719,660...37,724,020
Ensembl chr  X:37,719,662...37,723,964 		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 chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 IMP RGD PMID:17220320 RGD:7241820 NCBI chr11:83,538,669...83,540,204
Ensembl chr11:83,538,670...83,540,181 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:16197457 RGD:6893534 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein susceptibility ISO DNA:frameshift mutation:cds:p.N233X3 (human)
DNA:mutations:multiple (human)
DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) 		RGD PMID:14615110 PMID:16189652 PMID:14566051 RGD:11352767, RGD:11531138, RGD:11352770 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cfh complement component factor h ISO
IAGP 		DNA:mutations, polymorphisms:promoter, exon:multiple
ClinVar Annotator: match by term: Hereditary hemolytic uremic syndrome 		ClinVar
MouseDO
RGD		 PMID:30595568 PMID:14583443 RGD:11041164 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502 		JBrowse link
G Dgke diacylglycerol kinase, epsilon ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G F2 coagulation factor II ISO associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G Fos FBJ osteosarcoma oncogene IEP RGD PMID:15632024 RGD:7242276 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Hp haptoglobin ISO RGD PMID:6218601 RGD:1626361 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 severity ISO associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 treatment ISO RGD PMID:27378476 RGD:11530050 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) severity ISO associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092 		JBrowse link
G Plat plasminogen activator, tissue ISO associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Thbd thrombomodulin IMP RGD PMID:22942429 RGD:11038690 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 6:115,521,652...115,555,297
Ensembl chr 6:115,521,625...115,555,589 		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
IAGP 		ClinVar Annotator: match by term: Hereditary elliptocytosis
OMIM:130600 | OMIM:611804
associated with Myelodysplastic-Myeloproliferative Diseases 		ClinVar
MouseDO
RGD		 PMID:17994571 RGD:11252097 NCBI chr 4:131,650,724...131,802,824
Ensembl chr 4:131,650,724...131,802,632 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 NCBI chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary 		CTD
ClinVar
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:13208947 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IAGP
ISO 		DNA:insertion:intron:
ClinVar Annotator: match by term: Elliptocytosis 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11154235 RGD:11059523 NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Elliptocytosis 		CTD
ClinVar		 PMID:1975598 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		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 chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1, erythroid severity ISO
IAGP
IMP 		ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse) 		ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:8640229 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD		 PMID:28492532 PMID:1558976 RGD:1598910 NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553 		JBrowse link
G Gpi1 glucose-6-phosphate isomerase 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) IAGP DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD		 PMID:20691777 RGD:10769342 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:25741868 NCBI chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human) 		ClinVar
CTD
RGD		 PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 More... RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IAGP 		DNA:polymorphisms:introns,exon:
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 Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds: 		ClinVar
RGD		 PMID:2794061 PMID:3597773 PMID:8857939 PMID:8941647 PMID:15384986 More... RGD:11059521, RGD:11059522 NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Sptb spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... RGD:11059526 NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		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 IAGP OMIM:182900 MouseDO NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391 		JBrowse link
G Ank1 ankyrin 1, erythroid ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:182900 		OMIM
ClinVar
CTD
MouseDO		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 IAGP OMIM:182900 MouseDO NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IAGP OMIM:182900 MouseDO NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		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 polypeptide 2, skeletal muscle, adult ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 ClinVar PMID:25741868 NCBI chr11:67,061,853...67,088,343
Ensembl chr11:67,061,853...67,088,343 		JBrowse link
G Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 ClinVar PMID:25741868 NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,720 		JBrowse link
G Plekhg3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr12:76,580,330...76,627,265
Ensembl chr12:76,577,665...76,627,262 		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 chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321 		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 chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
OMIM:270970 		OMIM
ClinVar
CTD
MouseDO		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8844207 More... NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		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 (anion exchanger), member 1 IAGP
ISO 		OMIM:612653
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553 		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 chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		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 chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:66,189,926...66,424,909
Ensembl chr18:66,178,373...66,435,812 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		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 4:106,418,279...106,446,310
Ensembl chr 4:106,418,235...106,446,310 		JBrowse link
G Dnah14 dynein, axonemal, heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 1:181,404,158...181,642,306
Ensembl chr 1:181,404,124...181,643,339 		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 chr11:65,722,150...66,059,379
Ensembl chr11:65,722,108...66,059,377 		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 chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Fen1 flap structure specific endonuclease 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,176,496...10,181,757
Ensembl chr19:10,176,496...10,181,533 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634 		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:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr15:38,869,673...38,901,587
Ensembl chr15:38,869,429...38,901,583 		JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 NCBI chr17:73,800,202...74,019,138
Ensembl chr17:73,800,223...74,017,448 		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 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 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 chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Kif19a kinesin family member 19A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:114,656,227...114,681,565
Ensembl chr11:114,656,214...114,681,565 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:24549645 PMID:25741868 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		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 chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33027564 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 2:168,072,542...168,074,223
Ensembl chr 2:168,072,542...168,074,514 		JBrowse link
G Mybphl myosin binding protein H-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 3:108,272,227...108,287,373
Ensembl chr 3:108,272,227...108,287,373 		JBrowse link
G Myo18a myosin XVIIIA ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr11:77,654,066...77,756,806
Ensembl chr11:77,654,072...77,756,806 		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 chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112 		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... NCBI chr 2:52,026,652...52,228,810
Ensembl chr 2:52,026,659...52,268,486 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929 		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 chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		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 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		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 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923 		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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:10449659 PMID:25741868 PMID:31680349 NCBI chr 2:90,864,594...90,876,074
Ensembl chr 2:90,865,965...90,876,074 		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 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		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 chr12:16,944,808...17,038,275
Ensembl chr12:16,944,896...17,037,824 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		JBrowse link
G Serpina11 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr12:103,946,502...103,956,227
Ensembl chr12:103,946,502...103,956,216 		JBrowse link
G Sftpa1 surfactant associated protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		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 chr19:53,932,018...54,021,711
Ensembl chr19:53,932,737...54,021,564 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949 		JBrowse link
G Svopl SV2 related protein homolog (rat)-like ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 6:37,960,674...38,023,944
Ensembl chr 6:37,960,674...38,023,931 		JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:25741868 PMID:26036949 PMID:28749478 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:4,867,921...4,904,153
Ensembl chr16:4,867,921...4,904,153 		JBrowse link
G Vps13d vacuolar protein sorting 13D ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar NCBI chr 4:144,597,619...144,921,598
Ensembl chr 4:144,699,192...144,921,575 		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, 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 chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		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 (proton-coupled divalent metal ion transporters), member 2 ISO ClinVar Annotator: match by term: SLC11A2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35457224 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953 		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 chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		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 chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411 		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 chr 6:15,720,660...15,802,168
Ensembl chr 6:15,720,660...15,802,168 		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 I, domain 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 13 OMIM
ClinVar		 PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873 NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		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 ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 2:84,160,970...84,255,786
Ensembl chr 2:84,160,970...84,255,755 		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 chr17:71,559,167...71,618,551
Ensembl chr17:71,559,167...71,618,973 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812 		JBrowse link
G Myl12a myosin, light chain 12A, regulatory, non-sarcomeric ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,300,788...71,309,528
Ensembl chr17:71,300,651...71,309,873 		JBrowse link
G Myl12b myosin, light chain 12B, regulatory ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,280,958...71,297,511
Ensembl chr17:71,280,128...71,297,885 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,326,455...71,433,851
Ensembl chr17:71,309,628...71,433,851 		JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr17:71,151,200...71,160,527
Ensembl chr17:71,151,200...71,160,541 		JBrowse link
methemoglobinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A (microsomal) ISO DNA:missense mutation:cds:p.S127P (human) RGD PMID:2107882 RGD:1599659 NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16469290 PMID:11295830 RGD:1599771 NCBI chr15:83,037,696...83,060,641
Ensembl chr15:83,037,695...83,056,793 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12030840 NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility IMP RGD PMID:20562208 RGD:10755319 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3026948 NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:15929117
methemoglobinemia and ambiguous genitalia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5a cytochrome b5 type A (microsomal) ISO ClinVar Annotator: match by term: CYB5A-related condition | ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3951505 PMID:8262522 PMID:20080843 PMID:22170710 PMID:25741868 More... NCBI chr18:84,869,463...84,897,996
Ensembl chr18:84,856,829...84,897,996 		JBrowse link
Methemoglobinemia, Alpha-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: Methemoglobinemia, alpha type OMIM
ClinVar		 PMID:3026948 PMID:3957697 PMID:5896605 PMID:5964191 PMID:6998928 More... NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
Methemoglobinemia, Beta-Globin Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: 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...
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:141,634,142...141,749,722
Ensembl chr  X:141,634,142...141,749,724 		JBrowse link
G Gng5c G protein subunit gamma 5C ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr17:28,945,200...28,945,678
Ensembl chr17:28,945,057...28,945,674 		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:141,841,655...141,888,326
Ensembl chr  X:141,876,886...141,887,293 		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:141,463,343...141,626,490
Ensembl chr  X:141,464,402...141,626,490 		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 chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Pus1 pseudouridine synthase 1 IAGP
ISO 		OMIM:500011 | OMIM:600462 | OMIM:613561
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD		 PMID:17056637 PMID:19731322 PMID:25058219 PMID:25741868 PMID:26556812 More... NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504 		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 chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		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 chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) 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 chr16:16,120,829...16,127,504
Ensembl chr16:16,120,829...16,127,504 		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 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
NADH Cytochrome B5 Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: 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
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons,3'UTR: 		OMIM
ClinVar
CTD
RGD		 PMID:1159544 PMID:1400360 PMID:1707593 PMID:1898726 PMID:2107882 More... RGD:11040533 NCBI chr15:83,037,696...83,060,641
Ensembl chr15:83,037,695...83,056,793 		JBrowse link
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis 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 chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197 		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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882 		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 (anion exchanger), member 1 ISO DNA:deletion, missense mutation:cds:c.1198_1224del, p.K56E (human)
ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:10450479 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
overhydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rhesus blood group-associated A 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19831342 PMID:21859730 PMID:23967154 PMID:25741868 PMID:28492532 NCBI chr17:41,121,990...41,154,985
Ensembl chr17:41,122,017...41,151,645 		JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hc hemolytic complement ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar		 PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 More... NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... RGD:11087560 NCBI chr  X:163,202,814...163,216,912
Ensembl chr  X:163,202,783...163,216,912 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism CTD PMID:25417052 NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		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:163,202,814...163,216,912
Ensembl chr  X:163,202,783...163,216,912 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 ClinVar PMID:25741868 NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		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 chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457 		JBrowse link
Rh deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhag Rhesus blood group-associated A glycoprotein ISO ClinVar Annotator: match by term: Rh-null, regulator type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9442063 PMID:10467273 PMID:25741868 PMID:28492532 PMID:32036089 More... NCBI chr17:41,121,990...41,154,985
Ensembl chr17:41,122,017...41,151,645 		JBrowse link
G Rhd Rh blood group, D antigen ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 4:134,591,875...134,623,483
Ensembl chr 4:134,591,847...134,623,483 		JBrowse link
G Rsrp1 arginine/serine rich protein 1 ISO ClinVar Annotator: match by term: RhD negative ClinVar NCBI chr 4:134,650,936...134,654,681
Ensembl chr 4:134,650,903...134,654,982 		JBrowse link
sickle cell anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alad aminolevulinate, delta-, dehydratase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155 		JBrowse link
G Apob apolipoprotein B treatment ISO RGD PMID:24035168 RGD:11354943 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Bcl11a BCL11 transcription factor A severity
treatment 		ISO
IMP 		DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) RGD PMID:18667698 PMID:22360576 PMID:21998251 RGD:11099970, RGD:11100007, RGD:11099996 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G C3 complement component 3 severity ISO protein:increased processing RGD PMID:7554454 PMID:3896597 RGD:11040773, RGD:11040777 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Cd36 CD36 molecule treatment ISO
IMP 		protein:increased expression:erythrocyte RGD PMID:18322255 PMID:20015873 RGD:6893506, RGD:11041114 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma (human) RGD PMID:24368019 RGD:11352270 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cfb complement factor B ISO protein:decreased activity RGD PMID:10440069 PMID:12793071 RGD:11041159, RGD:11041160 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Cyp2c66 cytochrome P450, family 2, subfamily c, polypeptide 66 susceptibility ISO DNA:polymorphisms: :c.681 G>A,wildtype(human) RGD PMID:20831548 RGD:11352749 NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516 		JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305 		JBrowse link
G F2 coagulation factor II disease_progression IMP
ISO 		protein:increased expression:plasma: RGD PMID:26286849 PMID:8191393 RGD:11565074, RGD:11565080 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:15795541 RGD:11341683 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G Gch1 GTP cyclohydrolase 1 sexual_dimorphism ISO DNA:SNP, haplotype:rs8007267 (human) RGD PMID:24136375 RGD:329961567 NCBI chr14:47,391,352...47,426,870
Ensembl chr14:47,391,352...47,426,870 		JBrowse link
G Gpx1 glutathione peroxidase 1 treatment ISO
IEP 		protein:decreased expression:penis RGD PMID:19951064 PMID:20846340 PMID:22620981 RGD:11352756, RGD:11352775, RGD:11352757 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gsr glutathione reductase IEP protein:increased activity:erythrocyte: RGD PMID:14717789 RGD:11059503 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO RGD PMID:23049400 RGD:10450863 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism, haplotype RGD PMID:19254255 RGD:11041761 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO CTD Direct Evidence: marker/mechanism
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 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 		CTD
ClinVar		 PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:429843 More...
G Hbb-b2 hemoglobin, beta adult minor chain ISO RGD PMID:6304979 RGD:1600892
G Hbb-y hemoglobin Y, beta-like embryonic chain treatment ISO DNA:SNP: :rs7130110 (human) RGD PMID:12124399 PMID:23409025 RGD:11353858, RGD:11353860 NCBI chr 7:103,500,961...103,502,414
Ensembl chr 7:103,500,956...103,502,423 		JBrowse link
G Hk1 hexokinase 1 ISO protein:alternative form:erythrocyte RGD PMID:5686464 RGD:11353884 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO protein:increased activity:erythrocyte RGD PMID:900140 RGD:12904674 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP
ISO 		RGD PMID:11238038 PMID:20306336 RGD:10755563, RGD:10755565 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Il10 interleukin 10 treatment IEP RGD PMID:24281564 RGD:11046271 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il5 interleukin 5 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:25843670 RGD:11354938 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 IEP RGD PMID:21085184 RGD:10412315 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association 		ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human) 		RGD PMID:22924497 PMID:20113291 PMID:22924497 RGD:10449403, RGD:10449420, RGD:10449403 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29255069 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell severity ISO DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) RGD PMID:24088668 RGD:11533647 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nppb natriuretic peptide type B severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20408845 PMID:21689089 RGD:5685653 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO protein:increased expression:serum (human) RGD PMID:20306667 RGD:11541101 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Pgf placental growth factor ISO protein:increased expression:plasma RGD PMID:20040765 RGD:6483588 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity: serum (human) RGD PMID:24508012 RGD:11553835 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Selp selectin, platelet IMP RGD PMID:21071696 RGD:6219007 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IAGP OMIM:603903 MouseDO NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:plasma: RGD PMID:26928604 RGD:11062147 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:14965870 PMID:8140855 RGD:10449460 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16916123 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
Sickle Cell Retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO protein:increased expression:retinal blood vessels (human) RGD PMID:12957143 RGD:8554869 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
Sickle Cell Trait term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) ClinVar PMID:284392 PMID:974261 PMID:1891024 PMID:5097135 PMID:5481775 More...
G Hp haptoglobin ISO RGD PMID:21595649 PMID:19023114 RGD:5147416, RGD:5147440 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		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, sub-family B member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16892088 PMID:18637800 PMID:18398482 RGD:11038732 NCBI chr  X:103,324,171...103,457,452
Ensembl chr  X:103,324,263...103,457,462 		JBrowse link
G Alad aminolevulinate, delta-, dehydratase IDA protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16716198 PMID:16892088 PMID:7949148 RGD:1599037 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106 		JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr12:104,998,877...105,007,170
Ensembl chr12:104,998,947...105,009,165 		JBrowse link
G Hspa9 heat shock protein 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia ClinVar PMID:9389715 PMID:32906214 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:110,921,533...110,928,523
Ensembl chr 5:110,921,533...110,928,525 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Tfrc transferrin receptor IEP mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 aminolevulinic acid synthase 2, erythroid 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human) 		OMIM
ClinVar
CTD
RGD		 PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
G Apex2 apurinic/apyrimidinic endonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:149,286,625...149,371,175
Ensembl chr  X:149,302,515...149,372,864 		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 chr 9:119,939,428...119,953,570
Ensembl chr 9:119,939,440...119,953,570 		JBrowse link
sideroblastic anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar		 PMID:25741868 PMID:32634119 NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		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, CCA-adding, 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 chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435 		JBrowse link
Stomatocytosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 ISO ClinVar Annotator: match by term: Stomatocytosis II ClinVar PMID:25741868 NCBI chr 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		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 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 treatment ISO DNA:deletion: : (human) RGD PMID:26691424 RGD:12798507 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Hba-a1 hemoglobin alpha, adult chain 1 ISO ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE | ClinVar Annotator: match by term: Thalassemia ClinVar PMID:7786798 PMID:25741868 NCBI chr11:32,233,672...32,234,486
Ensembl chr11:32,233,511...32,234,465 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: Thalassemia ClinVar PMID:826080 PMID:3401329 PMID:4041267 PMID:5453914 PMID:5643522 More... NCBI chr11:32,246,492...32,247,310
Ensembl chr11:32,246,489...32,247,298 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain 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...
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IAGP MouseDO NCBI chr 7:45,172,341...45,175,692
Ensembl chr 7:45,172,340...45,175,692 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:11732868 RGD:10450569 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Triosephosphate isomerase deficiency
OMIM:615512 		OMIM
CTD
ClinVar
MouseDO		 PMID:2876430 PMID:7485100 PMID:7628118 PMID:8244340 PMID:8503454 More... NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259 		JBrowse link
Vaso-occlusive Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase, mu 1 severity ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:24840051 RGD:10450860 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO associated with Anemia, Sickle Cell;DNA:promoter,exon: RGD PMID:20172753 RGD:11530044 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron: RGD PMID:25263931 RGD:11533931 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pde9a phosphodiesterase 9A treatment IMP RGD PMID:22833547 RGD:242905184 NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO RGD PMID:23643401 RGD:11100023 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		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, class VI, type 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:59,268,643...59,450,041
Ensembl chr  X:59,268,650...59,636,304 		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, sub-family B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human) 		ClinVar
CTD
OMIM
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:103,324,171...103,457,452
Ensembl chr  X:103,324,263...103,457,462 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar PMID:25741868 NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:16783379 PMID:17148589 More... NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		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
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.M205V, 613G>A (human) 		OMIM
ClinVar
RGD		 PMID:871527 PMID:3164080 PMID:9536098 PMID:10700180 PMID:11418466 More... RGD:10450749, RGD:10450743, RGD:10450740 NCBI chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		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:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      hematopoietic system disease 3794
        anemia 875
          normocytic anemia 770
            aplastic anemia + 351
            hemolytic anemia + 447
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      Hemic and Lymphatic Diseases 4281
        hematopoietic system disease 3794
          anemia 875
            normocytic anemia 770
              aplastic anemia + 351
              hemolytic anemia + 447
paths to the root