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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 IAGP associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838
G HBB hemoglobin subunit beta IAGP DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility IAGP 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility IAGP associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) 		RGD PMID:25130874 PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
alpha thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX1 glutathione peroxidase 1 IDA RGD PMID:24577940 RGD:11352811 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HBA-LCR alpha-globin locus control region IAGP ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:3191033 PMID:10602170 PMID:11017952 PMID:24025420 PMID:28791910 NCBI chr16:87,808...152,854 JBrowse link
G HBA1 hemoglobin subunit alpha 1 IEP
IAGP
EXP 		ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: Alpha-thalassemia, zf type
ClinVar Annotator: match by term: HEMOGLOBIN CHAROLLES
ClinVar Annotator: match by term: HEMOGLOBIN PETAH TIKVA
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:508945 PMID:538560 PMID:640847 PMID:646867 PMID:949043 More... RGD:10449442 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 severity IAGP
EXP
ISO
IEP 		DNA:point mutation:exon:p.M1T (human)
ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: A-Thalassemia
ClinVar Annotator: match by term: Alpha-thalassemia, zf type
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:13856 PMID:478977 PMID:538560 PMID:620088 PMID:868864 More... RGD:1599361, RGD:11353869, RGD:10755575, RGD:10755570, RGD:10755568, RGD:10755567, RGD:10449442 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta IAGP
EXP 		ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN KENITRA
ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:274732 PMID:700140 More... RGD:11353869 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBD hemoglobin subunit delta IAGP ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr11:5,232,838...5,234,483
Ensembl chr11:5,232,678...5,243,657 		JBrowse link
G HBM hemoglobin subunit mu IAGP ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2986746 PMID:3191033 PMID:6158051 PMID:10602170 PMID:11017952 More... NCBI chr16:165,978...166,764
Ensembl chr16:153,892...166,764 		JBrowse link
G HBQ1 hemoglobin subunit theta 1 IAGP ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: Alpha-thalassemia, zf type 		ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr16:180,459...181,179
Ensembl chr16:180,459...181,179 		JBrowse link
G HBZ hemoglobin subunit zeta IAGP ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:2566576 PMID:2986746 PMID:3191033 PMID:8460633 PMID:9099846 More... NCBI chr16:152,644...154,503
Ensembl chr16:142,728...154,503 		JBrowse link
G HP haptoglobin IEP RGD PMID:16760505 RGD:11041792 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN KENITRA
ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU 		ClinVar PMID:81926 PMID:88735 PMID:274732 PMID:700140 PMID:893136 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC106099063 HBD recombination region IAGP ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:1347969 PMID:1693293 PMID:2442092 PMID:4625560 PMID:5660684 More... NCBI chr11:5,233,984...5,234,365 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: A-Thalassemia 		ClinVar PMID:13856 PMID:478977 PMID:538560 PMID:620088 PMID:868864 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: alpha Thalassemia
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 PMID:508945 PMID:538560 PMID:640847 PMID:646867 PMID:949043 More... NCBI chr16:174,618...177,541 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN KENITRA
ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU 		ClinVar PMID:14973 PMID:81926 PMID:88735 PMID:274732 PMID:700140 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: alpha Thalassemia ClinVar PMID:14973 PMID:893136 PMID:1112610 PMID:1347969 PMID:1427786 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
G LOC130058090 ATAC-STARR-seq lymphoblastoid active region 10202 IAGP ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: Alpha-thalassemia, zf type 		ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr16:180,960...181,219 JBrowse link
G LOC130058091 ATAC-STARR-seq lymphoblastoid silent region 6903 IAGP ClinVar Annotator: match by term: alpha Thalassemia
ClinVar Annotator: match by term: Alpha-thalassemia, zf type 		ClinVar PMID:538560 PMID:1553958 PMID:2318293 PMID:3191033 PMID:7910813 More... NCBI chr16:181,230...181,579 JBrowse link
G LUC7L LUC7 like IAGP ClinVar Annotator: match by term: Alpha-thalassemia, zf type ClinVar PMID:10910890 PMID:12730694 PMID:35190856 NCBI chr16:188,990...229,449
Ensembl chr16:188,969...229,463 		JBrowse link
alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP 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 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP 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:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATR ATR serine/threonine kinase IAGP ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP
ISS
EXP 		DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
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 X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | 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: X-linked alpha-thalassemia-mental retardation syndrome
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | 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: 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: X-linked alpha-thalassemia-mental retardation syndrome
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | 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: X-linked alpha-thalassemia-mental retardation syndrome
ClinVar Annotator: match by term: ATR-X-related syndrome
OMIM:301040
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: XLMR hypotonic face syndrome
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) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1770528 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 More... RGD:9586027, RGD:9586030, RGD:9586029 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP 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:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LOC130068458 ATAC-STARR-seq lymphoblastoid active region 29779 IAGP ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:77,785,980...77,786,089 JBrowse link
G MAGT1 magnesium transporter 1 IAGP 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:77,825,747...77,895,568
Ensembl chr  X:77,825,747...77,899,271 		JBrowse link
G PGAM4 phosphoglycerate mutase family member 4 IAGP 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:77,967,949...77,969,638
Ensembl chr  X:77,967,949...77,969,638 		JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
Alpha-Thalassemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBA1 hemoglobin subunit alpha 1 IAGP ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type ClinVar PMID:11791872 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN
ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type 		ClinVar PMID:8237999 PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN ZURICH ALBISRIEDEN
ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type 		ClinVar PMID:8237999 PMID:8943885 PMID:12603095 PMID:15481895 PMID:15658192 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: Alpha-thalassemia, Dutch type ClinVar PMID:11791872 NCBI chr16:174,618...177,541 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO ClinVar PMID:10335985 NCBI chr11:5,222,166...5,229,620 JBrowse link
alpha-thalassemia myelodysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP
EXP 		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:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G LOC130068458 ATAC-STARR-seq lymphoblastoid active region 29779 IAGP ClinVar Annotator: match by term: Acquired hemoglobin H disease ClinVar PMID:12858175 NCBI chr  X:77,785,980...77,786,089 JBrowse link
Alpha-Thalassemia-2, Nondeletional term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBA1 hemoglobin subunit alpha 1 IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:1634361 PMID:2298455 PMID:2468982 PMID:3177365 PMID:4623704 More... NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA 		ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN PLASENCIA 		ClinVar PMID:1281602 PMID:1581238 PMID:1634361 PMID:2298455 PMID:2372512 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional ClinVar PMID:8237999 PMID:9029003 PMID:10569720 PMID:19373587 PMID:19636270 More... NCBI chr16:174,618...177,541 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 IEP protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 9:137,174,784...137,188,560
Ensembl chr 9:137,174,784...137,188,560 		JBrowse link
G CD40LG CD40 ligand IEP protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD86 CD86 molecule IEP protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
disease_progression 		IAGP 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 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma: 		RGD PMID:7577642 PMID:11876982 RGD:11049159, RGD:11049449 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand IEP protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231 		JBrowse link
G GATA2 GATA binding protein 2 IEP mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IEP mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP in male RGD PMID:16079101 RGD:10450858 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility
no_association 		IAGP RGD PMID:14681495 PMID:16227674 RGD:10450790, RGD:10450878
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 treatment IAGP DNA:polymorphism, haplotype RGD PMID:12070003 PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity
treatment 		IAGP DNA:polymorphism, haplotype RGD PMID:24979673 PMID:7994040 PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G IFNG interferon gamma susceptibility
treatment 		IAGP
ISS
EXP 		DNA:repeats:intron:
ClinVar Annotator: match by term: Aplastic anemia
OMIM:609135
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:25741868 PMID:15327519 PMID:18426658 PMID:20953611 RGD:10755688, RGD:10755710, RGD:10755690 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC110806306 telomerase RNA component (TERC) promoter IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 3:169,764,689...169,765,858 JBrowse link
G LOC126860438 MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:9590180 PMID:16199547 PMID:16415040 PMID:24763289 PMID:25741868 More... NCBI chr 8:89,947,754...89,948,953 JBrowse link
G NBN nibrin IAGP
EXP 		ClinVar Annotator: match by term: Aplastic anemia
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 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G PRF1 perforin 1 IAGP
EXP 		ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G RASA3 RAS p21 protein activator 3 ISS OMIM:609135 MouseDO NCBI chr13:113,977,783...114,132,623
Ensembl chr13:113,977,783...114,132,623 		JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G SBDS SBDS ribosome maturation factor EXP
IAGP 		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 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G TERC telomerase RNA component IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IEP
IAGP
EXP 		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 chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFB1 transforming growth factor beta 1 susceptibility
severity 		IAGP
IEP 		DNA:polymorphism: :509C>T(human)
protein:decreased expression: : 		RGD PMID:24362456 PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THPO thrombopoietin no_association IAGP DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human) 		RGD PMID:22686250 PMID:24085763 RGD:11073679, RGD:11073680 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:20301779 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TNF tumor necrosis factor IAGP DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G ZCCHC8 zinc finger CCHC-type containing 8 IAGP ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:122,471,600...122,500,932
Ensembl chr12:122,471,600...122,500,932 		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 IEP
IAGP 		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 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G BAAT bile acid-CoA:amino acid N-acyltransferase IAGP ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar PMID:17182750 PMID:20301541 NCBI chr 9:101,360,417...101,385,006
Ensembl chr 9:101,354,182...101,385,400 		JBrowse link
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:36599939 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
G C2 complement C2 IAGP 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 PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More... NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C3 complement C3 ISO
IAGP
EXP 		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5
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, 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: 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: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
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 chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359 		JBrowse link
G CD46 CD46 molecule severity
susceptibility 		IAGP
EXP
IEP 		DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: AHUS, 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: 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: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: CD46-related condition | 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: 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: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism
protein:increased expression:peripheral blood mononuclear cell (human)
DNA:snp:intron:c.IVS8+23T>G (rs2724374) (human)
DNA:missense mutations:cds:p.R69W, p.A304V (human) 		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 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25439097 PMID:25741868 PMID:28224992 PMID:28492532 PMID:29482223 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFB complement factor B IAGP
EXP 		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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:2249879 PMID:6308626 PMID:7452889 PMID:8181962 PMID:15661753 More... RGD:7242707, RGD:11040768 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CFH complement factor H IAGP
ISS
EXP
IEP
IDA
ISO
IMP 		DNA:missense mutation
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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
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: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 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, 4 | 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:deletion:Cds:
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, RGD:7364995, RGD:7364995 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFHR1 complement factor H related 1 susceptibility IAGP
EXP 		DNA:deletion
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: 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 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159 		JBrowse link
G CFHR2 complement factor H related 2 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 1:196,943,738...196,959,622
Ensembl chr 1:196,943,738...196,959,622 		JBrowse link
G CFHR3 complement factor H related 3 susceptibility IAGP
EXP 		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: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | 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 		ClinVar
OMIM
CTD		 PMID:16998489 PMID:17367211 PMID:18006700 PMID:19745068 PMID:20843825 More... NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G CFHR4 complement factor H related 4 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,888,052...196,918,633
Ensembl chr 1:196,888,014...196,918,795 		JBrowse link
G CFHR5 complement factor H related 5 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 		ClinVar PMID:16299065 PMID:17000000 PMID:19365580 PMID:24033266 PMID:25741868 More... NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678 		JBrowse link
G CFI complement factor I susceptibility IAGP
EXP 		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, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:849647 PMID:8613545 PMID:9536098 PMID:15173250 PMID:15917334 More... RGD:6906889 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9792860 PMID:11134255 PMID:11685592 PMID:11961012 PMID:12028435 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP
EXP 		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7
ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:23274426 PMID:23542698 PMID:24511134 PMID:24747643 PMID:25135762 More... NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:893142 PMID:1726094 PMID:7558877 PMID:25741868 NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC126805964 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 IAGP ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 ClinVar PMID:25741868 NCBI chr 1:196,858,323...196,859,522 JBrowse link
G LOC129388721 MPRA-validated peak638 silencer IAGP ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 ClinVar PMID:25741868 NCBI chr 1:196,738,766...196,738,966 JBrowse link
G LOC129932153 ATAC-STARR-seq lymphoblastoid active region 2274 IAGP ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 ClinVar PMID:25741868 NCBI chr 1:196,723,600...196,723,649 JBrowse link
G LOC129932405 ATAC-STARR-seq lymphoblastoid active region 2449 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome
ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome 		ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:207,752,105...207,752,314 JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:16311595 PMID:16714133 PMID:17768669 PMID:17853453 PMID:18164228 More... NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NPHP3 nephrocystin 3 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:26184788 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:9915943 PMID:11317351 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G PLA2R1 phospholipase A2 receptor 1 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 NCBI chr 2:159,923,933...160,062,615
Ensembl chr 2:159,932,006...160,062,615 		JBrowse link
G PLG plasminogen IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:28492532 PMID:28844315 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G THBD thrombomodulin severity
susceptibility
no_association 		IAGP
EXP 		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: THBD-related condition
ClinVar Annotator: match by term: 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: 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, 3 | 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 chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:19380626 PMID:25741868 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome ClinVar PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		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 IAGP DNA:polymorphism:exon:49G>A(p.T17A)(human) RGD PMID:12555221 RGD:11352242 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G FCGR2A Fc gamma receptor IIa ISO RGD PMID:18209093 PMID:9834201 RGD:11040887, RGD:11054970 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:12093879 RGD:11049457 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G LOC130058479 ATAC-STARR-seq lymphoblastoid silent region 7198 IAGP ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr16:11,255,350...11,255,499 JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:6427987 NCBI chr18:45,724,181...45,752,520
Ensembl chr18:45,687,025...45,752,520 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:8325343 RGD:10450476 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia ClinVar PMID:32853638 PMID:33087723 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G TLR8 toll like receptor 8 IAGP ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:25741868 PMID:33512449 PMID:34981838 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TLR8-AS1 TLR8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Autoimmune hemolytic anemia ClinVar PMID:25741868 PMID:33512449 PMID:34981838 NCBI chr  X:12,902,817...12,943,300
Ensembl chr  X:12,902,817...12,908,333 		JBrowse link
G TSLP thymic stromal lymphopoietin ISS OMIM:205700 MouseDO NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026 		JBrowse link
autosomal dominant beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP
EXP 		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... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE 		ClinVar PMID:81926 PMID:88735 PMID:909565 PMID:1301203 PMID:1353069 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type
ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE 		ClinVar PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type ClinVar PMID:14973 PMID:750553 PMID:893136 PMID:1112610 PMID:1177278 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 4
ClinVar Annotator: match by term: HSPA9-related condition 		ClinVar
OMIM		 PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:26598328 More... NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G LOC129936510 ATAC-STARR-seq lymphoblastoid active region 19704 IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 		ClinVar PMID:28492532 NCBI chr 3:39,383,679...39,383,858 JBrowse link
G SLC25A38 solute carrier family 25 member 38 IAGP
EXP 		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: 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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 3:39,383,370...39,397,351
Ensembl chr 3:39,383,370...39,397,351 		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 IAGP ClinVar Annotator: match by term: Sideroblastic anemia 3 ClinVar
OMIM		 PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		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 IAGP ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
beta thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A-GAMMA3'E A-gamma-globin 3' regulatory region IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,245,527...5,248,345 JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 ISO mRNA, protein:decreased expression:liver RGD PMID:21281810 RGD:11038787 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G APOB apolipoprotein B IEP protein:decreased expression:plasma (human) RGD PMID:9180253 RGD:11354944 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E IEP RGD PMID:22705320 RGD:11039491 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G BCL11A BCL11 transcription factor A severity
treatment 		IAGP
IDA 		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 chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BGLT3 beta globin locus transcript 3 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,244,554...5,245,546
Ensembl chr11:5,244,554...5,245,546 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H EXP CTD Direct Evidence: marker/mechanism CTD PMID:31542421 NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CFB complement factor B IEP protein:decreased expression:serum RGD PMID:6914868 RGD:11041572 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP DNA:SNP RGD PMID:12803121 RGD:11041179 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:16225658 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G GATA1 GATA binding protein 1 treatment IDA RGD PMID:16696909 RGD:10450613 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GH1 growth hormone 1 treatment IDA RGD PMID:2045623 RGD:11352730 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GSR glutathione-disulfide reductase IEP protein:decreased activity:erythrocyte: RGD PMID:20126808 RGD:11052141 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:19838709 RGD:10755320
G HAMP hepcidin antimicrobial peptide treatment ISO
EXP
IEP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16755567 PMID:17299088 PMID:23905873 RGD:11041616, RGD:11041617 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 EXP
IAGP 		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 chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta treatment IAGP
ISS
EXP
ISO
IMP 		DNA:nonsense mutation:CDS:168C>T, p.Q39X (human)
ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | 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: HEMOGLOBIN DEER LODGE
OMIM:613985
ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN
ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE
ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, haplotypes: :p.Q39X (human)
DNA:mutations, haplotypes: :multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:393 PMID:8114 PMID:14597 PMID:14973 PMID:20942 More... RGD:1600893, RGD:11353868, RGD:1600575, RGD:1600895 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBB-3'HS1 beta-globin 3' hypersensitive site 1 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,203,871...5,207,626 JBrowse link
G HBB-LCR beta-globin locus control region IAGP
ISS
EXP 		ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB
OMIM:613985
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: beta Thalassemia 		OMIM
ClinVar
MouseDO
CTD		 PMID:25682598 NCBI chr11:5,269,925...5,304,186 JBrowse link
G HBD hemoglobin subunit delta IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,232,838...5,234,483
Ensembl chr11:5,232,678...5,243,657 		JBrowse link
G HBE1 hemoglobin subunit epsilon 1 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,268,345...5,269,945
Ensembl chr11:5,268,345...5,505,652 		JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857 		JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605 		JBrowse link
G HBS1L HBS1 like translational GTPase IAGP DNA:SNP:exon:32C>T (human) RGD PMID:18839276 RGD:11353877 NCBI chr 6:134,960,378...135,054,822
Ensembl chr 6:134,960,378...135,103,056 		JBrowse link
G HFE homeostatic iron regulator no_association IAGP 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 chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP RGD PMID:12513847 RGD:11041746 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HP haptoglobin IEP RGD PMID:22885163 RGD:11041795 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G HS-E1 beta-globin hypersensitive site-embryonic 1 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,266,773...5,267,519 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum: RGD PMID:9666877 RGD:12743604 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IL1A interleukin 1 alpha IEP mRNA:decreased expression:blood, mononuclear cell RGD PMID:21576933 RGD:11051969 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:plasma RGD PMID:23905873 RGD:11041617 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KLF1 KLF transcription factor 1 ISS OMIM:187550 | OMIM:603902 | OMIM:613985 MouseDO NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LCN2 lipocalin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16755567 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE
ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN
ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE
ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) 		ClinVar PMID:393 PMID:8114 PMID:14597 PMID:20942 PMID:27132 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC106099063 HBD recombination region IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia ClinVar NCBI chr11:5,233,984...5,234,365 JBrowse link
G LOC106099064 HBG1 recombination region IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,249,068...5,250,324 JBrowse link
G LOC106099065 HBG2 recombination region IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,253,987...5,255,252 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: beta Thalassemia ClinVar PMID:1281602 PMID:1581238 PMID:2298455 PMID:2372512 PMID:3024968 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN Q (INDIA) ClinVar PMID:949043 PMID:4646552 PMID:7803274 PMID:21045395 PMID:25354131 More... NCBI chr16:174,618...177,541 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | 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: HEMOGLOBIN DEER LODGE
ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN
ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE
ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) 		ClinVar PMID:393 PMID:8114 PMID:14597 PMID:14973 PMID:20942 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC109951029 delta-globin 5' regulatory region IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,234,433...5,239,383 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: beta Thalassemia
ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia
ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia 		ClinVar PMID:14973 PMID:36184 PMID:239863 PMID:239952 PMID:287080 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
G LOC110008579 hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,193,634...5,194,446 JBrowse link
G LOC110013311 hereditary persistence of fetal hemoglobin-6 3' breakpoint enhancer IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,170,745...5,172,221 JBrowse link
G OR51B4 olfactory receptor family 51 subfamily B member 4 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,301,014...5,301,946
Ensembl chr11:5,301,014...5,301,946 		JBrowse link
G OR51V1 olfactory receptor family 51 subfamily V member 1 IAGP ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB ClinVar NCBI chr11:5,199,735...5,200,682
Ensembl chr11:5,199,735...5,200,682 		JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:17301963 PMID:17718875 PMID:22903915 PMID:28492532 NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:26608512 RGD:11552583 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G TERT telomerase reverse transcriptase IEP mRNA:increased expression:bone marrow RGD PMID:18466174 RGD:11038664 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TFR2 transferrin receptor 2 ISO
EXP 		mRNA:decreased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779 		JBrowse link
G TFRC transferrin receptor ISO
EXP 		mRNA:increased expression:liver:
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:16755567 PMID:16755567 RGD:11062138 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G TNF tumor necrosis factor IAGP DNA:polymorphisms:3' utr RGD PMID:19103526 RGD:10449458 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Mediterranean anemia ClinVar PMID:7898523 PMID:8205619 PMID:8951566 PMID:9060892 PMID:9201030 More... NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
beta-thalassemia intermedia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: Thalassemia intermedia
ClinVar Annotator: match by term: Beta thalassemia intermedia 		ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Beta thalassemia intermedia ClinVar PMID:1428943 PMID:1550780 PMID:1586746 PMID:1634236 PMID:1814858 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Beta thalassemia intermedia ClinVar PMID:1301199 PMID:1428943 PMID:1463768 PMID:1550780 PMID:1586746 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Beta thalassemia intermedia ClinVar PMID:1301199 PMID:1463768 PMID:1777603 PMID:1917531 PMID:1954392 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
beta-thalassemia major term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: HEMOGLOBIN COCODY
ClinVar Annotator: match by term: Beta-thalassemia major
ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN)
ClinVar Annotator: match by term: HEMOGLOBIN MALAY
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI
ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant 		ClinVar PMID:14973 PMID:27132 PMID:36184 PMID:81926 PMID:88735 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Beta-plus-thalassemia
ClinVar Annotator: match by term: HEMOGLOBIN COCODY
ClinVar Annotator: match by term: Beta-thalassemia major
ClinVar Annotator: match by term: HEMOGLOBIN MALAY
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI 		ClinVar PMID:27132 PMID:81926 PMID:88735 PMID:622390 PMID:700140 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: HEMOGLOBIN COCODY
ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN)
ClinVar Annotator: match by term: Beta-thalassemia major
ClinVar Annotator: match by term: HEMOGLOBIN MALAY
ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE
ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI 		ClinVar PMID:14973 PMID:27132 PMID:36184 PMID:81926 PMID:88735 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant
ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Hemoglobin E
ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN)
ClinVar Annotator: match by term: Cooley's anemia
ClinVar Annotator: match by term: Beta-thalassemia major
ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE 		ClinVar PMID:14973 PMID:36184 PMID:429843 PMID:721609 PMID:721614 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:plasma (human) RGD PMID:17617032 RGD:11553831 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992625 ATAC-STARR-seq lymphoblastoid active region 21580 IAGP ClinVar Annotator: match by term: Bone marrow failure syndrome 1
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition 		ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:56,467,462...56,467,671 JBrowse link
G SRP72 signal recognition particle 72 IAGP 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 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681 		JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD59 CD59 molecule (CD59 blood group) IAGP
EXP 		ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy
ClinVar Annotator: match by term: CD59-related condition
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 		ClinVar
CTD
OMIM		 PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		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 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to 		ClinVar
OMIM		 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 More... NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523 		JBrowse link
G LOC126860124 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum 		ClinVar PMID:25741868 PMID:27400125 PMID:28687708 PMID:29444212 PMID:29905864 More... NCBI chr 7:100,805,443...100,807,278 JBrowse link
G MDFIC MyoD family inhibitor domain containing ISS
IAGP 		OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY 		MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 7:114,922,094...115,019,917
Ensembl chr 7:114,922,094...115,019,917 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010 		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 IAGP
EXP 		DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 		CTD
ClinVar
RGD		 PMID:16098079 RGD:11081155 NCBI chr15:42,723,544...42,737,128
Ensembl chr15:42,723,544...42,737,128 		JBrowse link
G CDIN1 CDAN1 interacting nuclease 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISS MouseDO NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928 		JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307 		JBrowse link
G KIF23 kinesin family member 23 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		JBrowse link
G KLF1 KLF transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC126862382 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:69349279-69350478 IAGP ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 NCBI chr16:69,315,376...69,316,575 JBrowse link
G LOC130065472 ATAC-STARR-seq lymphoblastoid active region 17590 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr20:18,507,481...18,507,810 JBrowse link
G MAN2A1 mannosidase alpha class 2A member 1 ISS OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 MouseDO NCBI chr 5:109,689,927...109,869,625
Ensembl chr 5:109,689,927...109,869,625 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component EXP
IAGP 		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 chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G UBE2Q2 ubiquitin conjugating enzyme E2 Q2 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia ClinVar PMID:25741868 NCBI chr15:75,843,447...75,901,078
Ensembl chr15:75,843,307...75,901,078 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia ClinVar PMID:25741868 PMID:33186543 PMID:33186545 PMID:33460484 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939 		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 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... NCBI chr15:42,723,544...42,737,128
Ensembl chr15:42,723,544...42,737,128 		JBrowse link
G LOC130056931 ATAC-STARR-seq lymphoblastoid silent region 6376 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:20301759 PMID:25741868 PMID:28132690 PMID:28492532 NCBI chr15:42,736,355...42,736,644 JBrowse link
G LOC130056933 ATAC-STARR-seq lymphoblastoid silent region 6378 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I ClinVar PMID:25741868 NCBI chr15:42,737,065...42,737,314 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 IAGP DNA:missense mutations, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
DNA:missense mutation:cds:p.R1042W (human)
DNA:missense mutations, frameshift mutations, nonsense mutation:cds:multiple
DNA:mutations:multiple 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:12434312 PMID:12825070 PMID:16098079 PMID:16141353 More... RGD:1600473, RGD:40903077, RGD:40903076, RGD:40903075 NCBI chr15:42,723,544...42,737,128
Ensembl chr15:42,723,544...42,737,128 		JBrowse link
G LOC130056931 ATAC-STARR-seq lymphoblastoid silent region 6376 IAGP ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia 		ClinVar PMID:20301759 PMID:25741868 PMID:28492532 NCBI chr15:42,736,355...42,736,644 JBrowse link
G LOC130056932 ATAC-STARR-seq lymphoblastoid silent region 6377 IAGP ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:42,736,735...42,736,874 JBrowse link
G LOC130056933 ATAC-STARR-seq lymphoblastoid silent region 6378 IAGP ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia
ClinVar Annotator: match by term: CDAN1-related condition 		ClinVar PMID:25741868 NCBI chr15:42,737,065...42,737,314 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 IAGP ClinVar Annotator: match by term: CDIN1-related condition
ClinVar Annotator: match by term: CDA, TYPE Ib
ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib 		OMIM
ClinVar		 PMID:9220189 PMID:16643456 PMID:23716552 PMID:25741868 PMID:28492532 More... NCBI chr15:36,579,626...36,810,244
Ensembl chr15:36,579,626...36,810,248 		JBrowse link
G LOC130056772 ATAC-STARR-seq lymphoblastoid active region 9193 IAGP ClinVar Annotator: match by term: CDA, TYPE Ib ClinVar PMID:25741868 NCBI chr15:36,579,745...36,579,864 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 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:17,693,672...17,735,871
Ensembl chr20:17,693,672...17,735,871 		JBrowse link
G DZANK1 double zinc ribbon and ankyrin repeat domains 1 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,383,367...18,467,030
Ensembl chr20:18,383,367...18,467,281 		JBrowse link
G KAT14 lysine acetyltransferase 14 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,137,153...18,188,035
Ensembl chr20:18,137,228...18,188,387 		JBrowse link
G LOC126862987 MED14-independent group 3 enhancer GRCh37_chr20:18504796-18505995 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE 		ClinVar PMID:16199547 PMID:19561605 PMID:19621418 PMID:20941788 PMID:22208203 More... NCBI chr20:18,524,152...18,525,351 JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G OVOL2 ovo like zinc finger 2 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,024,152...18,059,188
Ensembl chr20:17,956,979...18,059,188 		JBrowse link
G PET117 PET117 cytochrome c oxidase chaperone IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,137,863...18,143,169
Ensembl chr20:18,137,863...18,143,169 		JBrowse link
G POLR3F RNA polymerase III subunit F IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,467,390...18,484,646
Ensembl chr20:18,466,878...18,484,648 		JBrowse link
G RBBP9 RB binding protein 9, serine hydrolase IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,486,540...18,497,225
Ensembl chr20:18,486,540...18,497,225 		JBrowse link
G RRBP1 ribosome binding protein 1 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:17,613,679...17,682,242
Ensembl chr20:17,613,678...17,682,295 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II
ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE
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 chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SNX5 sorting nexin 5 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:17,941,600...17,968,794
Ensembl chr20:17,941,597...17,968,980 		JBrowse link
G ZNF133 zinc finger protein 133 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II ClinVar PMID:19561605 PMID:25044164 PMID:28492532 NCBI chr20:18,288,527...18,316,996
Ensembl chr20:18,288,283...18,316,996 		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 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III
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 chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		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 IAGP ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive OMIM
ClinVar		 PMID:34818416 PMID:36200420 NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136 		JBrowse link
congenital dyserythropoietic anemia type IVa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4
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
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: KLF1-related condition
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: KLF1-related condition 		OMIM
ClinVar		 PMID:1659863 PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 More... NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC117125591 CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: KLF1-related condition
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN 		ClinVar PMID:1659863 PMID:18487511 PMID:21055716 PMID:21778342 PMID:23125034 More... NCBI chr19:12,884,935...12,885,511 JBrowse link
G LOC117125592 CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4
ClinVar Annotator: match by term: KLF1-related condition 		ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,886,091...12,888,153 JBrowse link
G LOC117125594 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756 IAGP ClinVar Annotator: match by term: CDA, TYPE IVa ClinVar PMID:7795610 PMID:9536098 PMID:11825066 PMID:17576681 PMID:25741868 More... NCBI chr19:12,890,667...12,891,942 JBrowse link
G LOC130063673 ATAC-STARR-seq lymphoblastoid silent region 10180 IAGP ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4
ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: KLF1-related condition
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 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV 		ClinVar PMID:24443441 PMID:25741868 PMID:28361594 PMID:28492532 PMID:31645145 More... NCBI chr19:12,885,624...12,885,883 JBrowse link
congenital dyserythropoietic anemia type IVb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: CDA, TYPE IVb
ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IVb
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 chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC117125591 CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element IAGP ClinVar Annotator: match by term: CDA, TYPE IVb
ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IVb 		ClinVar PMID:18487511 PMID:24443441 PMID:25724378 PMID:28361594 PMID:28492532 More... NCBI chr19:12,884,935...12,885,511 JBrowse link
G LOC130063673 ATAC-STARR-seq lymphoblastoid silent region 10180 IAGP ClinVar Annotator: match by term: CDA, TYPE IVb ClinVar PMID:24443441 PMID:28361594 PMID:28492532 PMID:31645145 PMID:34227100 NCBI chr19:12,885,624...12,885,883 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 IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G C3 complement C3 IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CD46 CD46 molecule IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:5316621 PMID:25741868 PMID:28492532 PMID:29300386 PMID:32641076 More... NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GPI glucose-6-phosphate isomerase IAGP DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H
Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) 		RGD PMID:8499925 PMID:9856489 RGD:1600631, RGD:1600632 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G GSR glutathione-disulfide reductase IEP protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans RGD PMID:947404 RGD:1600697 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G HBB hemoglobin subunit beta IAGP DNA,protein:point mutation,increased hydroxylation:CDS,CDS:Leu75Pro and Leu141Hydroxy-Leu
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY
ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW 		ClinVar
RGD		 PMID:3839771 PMID:5713642 PMID:6815132 PMID:6877904 PMID:7852083 More... RGD:1600886 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr16:88,731,180...88,741,425 JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY 		ClinVar PMID:3839771 PMID:5713642 PMID:6815132 PMID:6877904 PMID:7852083 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW
ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA
ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY 		ClinVar PMID:3839771 PMID:5713642 PMID:6815132 PMID:6877904 PMID:7852083 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PLEKHG3 pleckstrin homology and RhoGEF domain containing G3 IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr14:64,704,424...64,750,249
Ensembl chr14:64,704,102...64,750,249 		JBrowse link
G RHCE Rh blood group CcEe antigens EXP CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 1:25,362,249...25,430,203
Ensembl chr 1:25,362,249...25,430,192 		JBrowse link
G RHD Rh blood group D antigen EXP CTD Direct Evidence: marker/mechanism CTD PMID:9657769 NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
ISO 		DNA:missense mutations:cds:multiple (human) RGD PMID:16227998 PMID:8841202 RGD:10450505, RGD:10450509 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 PMID:26002053 PMID:28492532 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Congenital hemolytic anemia ClinVar PMID:25741868 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,740,861...40,750,477
Ensembl chr19:40,740,856...40,751,553 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G AXL AXL receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,425,359...41,428,730
Ensembl chr19:41,425,359...41,428,730 		JBrowse link
G B9D2 B9 domain containing 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G BLVRB biliverdin reductase B IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764 		JBrowse link
G C19orf47 chromosome 19 open reading frame 47 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CCDC97 coiled-coil domain containing 97 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,310,172...41,324,873
Ensembl chr19:41,310,172...41,324,873 		JBrowse link
G CCNP cyclin P IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697 		JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CEACAM21 CEA cell adhesion molecule 21 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,549,518...41,586,844
Ensembl chr19:41,549,518...41,586,844 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM4 CEA cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,613,436...41,627,074
Ensembl chr19:41,619,015...41,627,074 		JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,708,626...41,730,433
Ensembl chr19:41,708,585...41,730,433 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CEACAM7 CEA cell adhesion molecule 7 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,673,303...41,688,270
Ensembl chr19:41,673,303...41,706,976 		JBrowse link
G CIC capicua transcriptional repressor IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797 		JBrowse link
G CLC Charcot-Leyden crystal galectin IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029 		JBrowse link
G CNFN cornifelin IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,387,019...42,390,297
Ensembl chr19:42,387,019...42,390,297 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A member 13 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,088,451...41,096,195
Ensembl chr19:41,088,451...41,096,195 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G CYP2A7 cytochrome P450 family 2 subfamily A member 7 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,875,439...40,882,231
Ensembl chr19:40,875,439...40,882,752 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,114,432...41,128,381
Ensembl chr19:41,114,432...41,128,381 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,193,219...41,207,539
Ensembl chr19:41,193,210...41,207,539 		JBrowse link
G DEDD2 death effector domain containing 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,198,598...42,220,134
Ensembl chr19:42,198,598...42,220,140 		JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DMAC2 distal membrane arm assembly component 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,431,318...41,439,912
Ensembl chr19:41,431,318...41,440,717 		JBrowse link
G DMRTC2 DMRT like family C2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,844,916...41,852,333
Ensembl chr19:41,844,743...41,852,333 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,799,191...40,808,434
Ensembl chr19:40,798,996...40,808,434 		JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161 		JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852 		JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ERICH4 glutamate rich 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,443,156...41,444,765
Ensembl chr19:41,443,156...41,444,765 		JBrowse link
G EXOSC5 exosome component 5 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G FBL fibrillarin IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379 		JBrowse link
G FCGBP Fc gamma binding protein IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626 		JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:871527 PMID:3164080 PMID:9536098 PMID:12200364 PMID:14691578 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181 		JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,262,557...41,307,787
Ensembl chr19:41,262,496...41,307,787 		JBrowse link
G IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:197,889,077...197,960,177
Ensembl chr 3:197,889,077...197,960,142 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,717,112...40,740,860
Ensembl chr19:40,717,112...40,740,860 		JBrowse link
G LEUTX leucine twenty homeobox IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291 		JBrowse link
G LGALS13 galectin 13 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474 		JBrowse link
G LGALS14 galectin 14 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444 		JBrowse link
G LGALS16 galectin 16 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LOC119407405 CRISPRi-FlowFISH-validated PLP2 regulatory element 6 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr  X:48,793,298...48,793,798 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,835,075...41,844,871
Ensembl chr19:41,837,074...41,844,697 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MIA MIA SH3 domain containing IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,775,160...40,777,490
Ensembl chr19:40,771,648...40,777,490 		JBrowse link
G NUMBL NUMB like endocytic adaptor protein IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,665,905...40,690,651
Ensembl chr19:40,665,905...40,690,972 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,297,033...42,302,800
Ensembl chr19:42,297,033...42,303,546 		JBrowse link
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G POU2F2 POU class 2 homeobox 2 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,086,110...42,197,936
Ensembl chr19:42,086,110...42,196,585 		JBrowse link
G PRR19 proline rich 19 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,302,132...42,310,814
Ensembl chr19:42,302,098...42,310,814 		JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,778,247...40,796,942
Ensembl chr19:40,778,216...40,796,942 		JBrowse link
G RABAC1 Rab acceptor 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,956,683...41,959,321
Ensembl chr19:41,956,681...41,959,321 		JBrowse link
G RPL11 ribosomal protein L11 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL19 ribosomal protein L19 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr17:39,200,283...39,204,732
Ensembl chr17:39,200,283...39,204,840 		JBrowse link
G RPL26 ribosomal protein L26 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL35A ribosomal protein L35a IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS10 ribosomal protein S10 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS10-NUDT3 RPS10-NUDT3 readthrough IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chr 6:34,287,194...34,426,069
Ensembl chr 6:34,284,887...34,426,071 		JBrowse link
G RPS16 ribosomal protein S16 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949 		JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:9988267 PMID:10590074 PMID:10753603 PMID:12586610 PMID:12750732 More... NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS7 ribosomal protein S7 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G SELENOV selenoprotein V IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675 		JBrowse link
G SERTAD1 SERTA domain containing 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,421,589...40,425,992
Ensembl chr19:40,421,589...40,425,992 		JBrowse link
G SERTAD3 SERTA domain containing 3 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,440,844...40,444,335
Ensembl chr19:40,440,844...40,444,335 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,576,873...40,591,397
Ensembl chr19:40,576,853...40,591,399 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TMEM145 transmembrane protein 145 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,313,309...42,325,064
Ensembl chr19:42,313,309...42,325,064 		JBrowse link
G TMEM91 transmembrane protein 91 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:41,363,947...41,384,083
Ensembl chr19:41,350,911...41,384,083 		JBrowse link
G TTC9B tetratricopeptide repeat domain 9B IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,216,058...40,218,384
Ensembl chr19:40,216,058...40,218,384 		JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G ZNF526 zinc finger protein 526 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
G ZNF546 zinc finger protein 546 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:39,997,060...40,021,038
Ensembl chr19:39,984,134...40,021,038 		JBrowse link
G ZNF574 zinc finger protein 574 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:42,068,477...42,081,552
Ensembl chr19:42,068,477...42,081,552 		JBrowse link
G ZNF780A zinc finger protein 780A IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,069,152...40,090,943
Ensembl chr19:40,069,152...40,090,943 		JBrowse link
G ZNF780B zinc finger protein 780B IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr19:40,028,260...40,056,231
Ensembl chr19:40,028,260...40,056,231 		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 IEP
IAGP 		protein:decreased activity:erythrocyte membrane:
DNA:missense, nonsense mutations:splice junction,cds:multiple 		RGD PMID:7451647 PMID:18343696 RGD:11352693, RGD:11352695 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973 		JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP ClinVar Annotator: match by term: Hereditary methemoglobinemia ClinVar PMID:10807796 PMID:11159544 PMID:11295830 PMID:12756024 PMID:16310381 More... NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870 		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 IAGP DNA:missense, deletion mutations:cds: RGD PMID:17662886 RGD:11100022 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP
EXP 		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:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GPI glucose-6-phosphate isomerase IAGP
ISS
ISO 		DNA:point_mutation:CDS:1648A>G amino acid K550E
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 chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HK1 hexokinase 1 IAGP
ISO 		DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human)
DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte 		RGD PMID:7655856 PMID:11783948 RGD:1601519, RGD:11353878 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608 NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU ClinVar PMID:8280608 NCBI chr11:5,222,166...5,229,620 JBrowse link
G NT5C3A 5'-nucleotidase, cytosolic IIIA EXP CTD Direct Evidence: marker/mechanism CTD PMID:16672222 NCBI chr 7:33,014,113...33,062,776
Ensembl chr 7:33,014,113...33,062,796 		JBrowse link
G PKLR pyruvate kinase L/R IAGP 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 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G TPI1 triosephosphate isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8503454 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
congenital nonspherocytic hemolytic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 ClinVar
OMIM		 PMID:5448 PMID:16832 PMID:736032 PMID:848857 PMID:853376 More... NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP 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:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
congenital nonspherocytic hemolytic anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase IAGP ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency
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 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G LOC130000170 ATAC-STARR-seq lymphoblastoid silent region 19083 IAGP ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,727,507...30,727,946 JBrowse link
congenital nonspherocytic hemolytic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 IAGP ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar PMID:25741868 NCBI chr 1:155,277,463...155,289,848
Ensembl chr 1:155,277,463...155,289,848 		JBrowse link
G PKLR pyruvate kinase L/R IMP
IAGP
ISS
EXP
ISO 		human gene complementing mouse knockout
ClinVar Annotator: match by term: PKLR-related condition
ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
OMIM:266200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G338D (mouse)
associated with Anemia, Hemolytic;DNA:mutations:multiple (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1536957 PMID:1670447 PMID:1896471 PMID:1937486 PMID:2018831 More... RGD:11535996, RGD:11537470, RGD:11537382 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		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 IAGP
EXP 		ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G ST6GALNAC4-ST6GALNAC6-AK1 ST6GALNAC4-ST6GALNAC6-AK1 readthrough IAGP ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency ClinVar PMID:2542324 PMID:9432020 PMID:10233365 PMID:12649162 PMID:15315793 More... NCBI chr 9:127,866,486...127,917,041 JBrowse link
congenital nonspherocytic hemolytic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPI glucose-6-phosphate isomerase IAGP ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
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 		ClinVar
OMIM		 PMID:4076245 PMID:7989588 PMID:8499925 PMID:8822952 PMID:8822954 More... NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		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 IAGP ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5 | ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		ClinVar
OMIM		 PMID:6848140 PMID:7655856 PMID:11783948 PMID:12211198 PMID:12393545 More... NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		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 IAGP 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 chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027 		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 IAGP
EXP 		ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GCLC-AS1 GCLC antisense RNA 1 IAGP ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,431,494...53,506,911
Ensembl chr 6:53,418,454...53,522,561 		JBrowse link
congenital nonspherocytic hemolytic anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5C3A 5'-nucleotidase, cytosolic IIIA IAGP
EXP 		ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:6310729 PMID:11369620 PMID:12714505 PMID:12930399 PMID:15238149 More... NCBI chr 7:33,014,113...33,062,776
Ensembl chr 7:33,014,113...33,062,796 		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 IAGP 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:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
dehydrated hereditary stomatocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DESICCYTOSIS GARDOS 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSALR1 HSP90AB1 associated lncRNA 1 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
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 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH 		ClinVar PMID:25741868 PMID:28492532 PMID:28716860 NCBI chr16:88,731,180...88,741,425 JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LOC130059751 ATAC-STARR-seq lymphoblastoid silent region 7872 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 PMID:28492532 NCBI chr16:88,737,356...88,737,575 JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP
EXP 		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 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
dehydrated hereditary stomatocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP 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 chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G LOC128598884 CRISPRi-validated cis-regulatory element KCNN4 K1 IAGP ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 ClinVar PMID:25741868 NCBI chr19:43,774,607...43,774,646 JBrowse link
delta beta-thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A-GAMMA3'E A-gamma-globin 3' regulatory region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,245,527...5,248,345 JBrowse link
G AC127526.2 novel transcript IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,507,980...3,571,987
Ensembl chr11:3,481,520...3,581,211 		JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:925,870...1,012,240
Ensembl chr11:924,881...1,012,245 		JBrowse link
G ART1 ADP-ribosyltransferase 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,645,128...3,664,416
Ensembl chr11:3,645,128...3,664,416 		JBrowse link
G ART5 ADP-ribosyltransferase 5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,638,512...3,642,379
Ensembl chr11:3,638,512...3,642,316 		JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,268,498...2,270,588
Ensembl chr11:2,268,498...2,270,588 		JBrowse link
G BGLT3 beta globin locus transcript 3 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,244,554...5,245,546
Ensembl chr11:5,244,554...5,245,546 		JBrowse link
G BRSK2 BR serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,389,934...1,462,689
Ensembl chr11:1,389,899...1,462,689 		JBrowse link
G C11orf21 chromosome 11 open reading frame 21 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,628...2,303,049 		JBrowse link
G C11orf40 chromosome 11 putative open reading frame 40 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,571,423...4,577,820
Ensembl chr11:4,571,423...4,577,820 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CARS1-AS1 CARS1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,029,394...3,041,260
Ensembl chr11:3,029,009...3,041,260 		JBrowse link
G CD151 CD151 molecule (Raph blood group) IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831 		JBrowse link
G CD81 CD81 molecule IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CD81-AS1 CD81 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,328,749...2,377,992
Ensembl chr11:2,328,749...2,377,992 		JBrowse link
G CDHR5 cadherin related family member 5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:616,583...624,955
Ensembl chr11:616,577...626,078 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:787,115...790,090
Ensembl chr11:787,115...790,113 		JBrowse link
G CHID1 chitinase domain containing 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:867,859...915,214
Ensembl chr11:867,859...915,058 		JBrowse link
G CHRNA10 cholinergic receptor nicotinic alpha 10 subunit IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,665,587...3,671,384
Ensembl chr11:3,665,587...3,671,384 		JBrowse link
G CRACR2B calcium release activated channel regulator 2B IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:826,157...831,991
Ensembl chr11:826,144...831,991 		JBrowse link
G CTSD cathepsin D IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706 		JBrowse link
G DUSP8 dual specificity phosphatase 8 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,554,051...1,572,848
Ensembl chr11:1,554,051...1,572,271 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727 		JBrowse link
G FAM99A family with sequence similarity 99 member A IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,665,599...1,667,856
Ensembl chr11:1,665,369...1,668,955 		JBrowse link
G FAM99B family with sequence similarity 99 member B IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,683,270...1,685,629
Ensembl chr11:1,683,269...1,685,629 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:767,222...777,487
Ensembl chr11:767,220...777,488 		JBrowse link
G GATD1-DT GATD1 divergent transcript IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:777,578...784,297
Ensembl chr11:777,570...785,231 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G H19-ICR H19/IGF2 imprinting control region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,998,202...2,003,509 JBrowse link
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta
ClinVar Annotator: match by term: Delta-beta-thalassemia 		OMIM
ClinVar		 PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBB-3'HS1 beta-globin 3' hypersensitive site 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,203,871...5,207,626 JBrowse link
G HBB-LCR beta-globin locus control region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,269,925...5,304,186 JBrowse link
G HBD hemoglobin subunit delta IAGP ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar Annotator: match by term: Delta-beta-thalassemia
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 		ClinVar PMID:2798417 PMID:9207479 PMID:11939506 PMID:15921167 PMID:16434382 More... NCBI chr11:5,232,838...5,234,483
Ensembl chr11:5,232,678...5,243,657 		JBrowse link
G HBE1 hemoglobin subunit epsilon 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,268,345...5,269,945
Ensembl chr11:5,268,345...5,505,652 		JBrowse link
G HBG1 hemoglobin subunit gamma 1 IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta
ClinVar Annotator: match by term: Fetal hemoglobin, a-gamma type, reduction in
ClinVar Annotator: match by term: Sardinian HPFH 		ClinVar
OMIM		 PMID:291015 PMID:808940 PMID:811241 PMID:939551 PMID:1373683 More... NCBI chr11:5,248,269...5,249,857
Ensembl chr11:5,248,269...5,249,857 		JBrowse link
G HBG2 hemoglobin subunit gamma 2 IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 		ClinVar
OMIM		 PMID:1698280 PMID:2432426 PMID:2441598 PMID:2798417 PMID:6205403 More... NCBI chr11:5,253,188...5,254,781
Ensembl chr11:5,253,188...5,505,605 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HS-E1 beta-globin hypersensitive site-embryonic 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,266,773...5,267,519 JBrowse link
G IFITM10 interferon induced transmembrane protein 10 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,732,406...1,750,595
Ensembl chr11:1,732,406...1,750,595 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGF2-AS IGF2 antisense RNA IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,140,512...2,148,666
Ensembl chr11:2,140,501...2,148,666 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G IRF7 interferon regulatory factor 7 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:612,555...615,950
Ensembl chr11:612,553...615,983 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1-AS1 KCNQ1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,840,135...2,861,569
Ensembl chr11:2,840,135...2,871,662 		JBrowse link
G KCNQ1DN KCNQ1 downstream neighbor IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,870,033...2,872,105
Ensembl chr11:2,870,033...2,872,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KRTAP5-1 keratin associated protein 5-1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,584,342...1,585,283
Ensembl chr11:1,584,342...1,585,283 		JBrowse link
G KRTAP5-2 keratin associated protein 5-2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,597,177...1,598,294
Ensembl chr11:1,597,177...1,598,294 		JBrowse link
G KRTAP5-3 keratin associated protein 5-3 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,607,565...1,608,463
Ensembl chr11:1,607,565...1,608,463 		JBrowse link
G KRTAP5-4 keratin associated protein 5-4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,620,958...1,622,138
Ensembl chr11:1,620,958...1,622,138 		JBrowse link
G KRTAP5-5 keratin associated protein 5-5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,629,775...1,630,930
Ensembl chr11:1,629,775...1,630,930 		JBrowse link
G KRTAP5-6 keratin associated protein 5-6 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,697,195...1,697,755
Ensembl chr11:1,697,195...1,697,755 		JBrowse link
G KRTAP5-AS1 KRTAP5-1/KRTAP5-2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,572,741...1,599,184
Ensembl chr11:1,571,353...1,620,791 		JBrowse link
G LINC01150 long intergenic non-protein coding RNA 1150 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,896,759...1,908,359
Ensembl chr11:1,897,015...1,908,656 		JBrowse link
G LINC01219 long intergenic non-protein coding RNA 1219 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,991,096...1,993,469
Ensembl chr11:1,988,477...1,993,673 		JBrowse link
G LINC02688 long intergenic non-protein coding RNA 2688 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,049,880...1,055,764
Ensembl chr11:1,040,663...1,055,781 		JBrowse link
G LINC02708 long intergenic non-protein coding RNA 2708 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,687,630...1,694,740
Ensembl chr11:1,673,100...1,689,093 		JBrowse link
G LINC02749 long intergenic non-protein coding RNA 2749 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,187,152...4,202,653
Ensembl chr11:4,175,885...4,202,669 		JBrowse link
G LMNTD2 lamin tail domain containing 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:554,850...560,738
Ensembl chr11:554,850...560,738 		JBrowse link
G LMNTD2-AS1 LMNTD2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:559,262...560,107
Ensembl chr11:557,595...560,114 		JBrowse link
G LOC105274310 H19/IGF2 enhancer region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,986,890...1,991,809 JBrowse link
G LOC105376526 uncharacterized LOC105376526 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,473,571...3,477,073 JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 		ClinVar PMID:81926 PMID:88735 PMID:909565 PMID:1301203 PMID:1353069 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC106099063 HBD recombination region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,233,984...5,234,365 JBrowse link
G LOC106099064 HBG1 recombination region IAGP ClinVar Annotator: match by term: Sardinian HPFH
ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 		ClinVar PMID:291015 PMID:808940 PMID:811241 PMID:939551 PMID:1379347 More... NCBI chr11:5,249,068...5,250,324 JBrowse link
G LOC106099065 HBG2 recombination region IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 		ClinVar PMID:1698280 PMID:2432426 PMID:2441598 PMID:2798417 PMID:6205403 More... NCBI chr11:5,253,987...5,255,252 JBrowse link
G LOC106783508 nonconserved acetylation island sequence 52 enhancer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,700,128...2,701,434 JBrowse link
G LOC106799843 nonconserved acetylation island sequence 93 enhancer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,387,935...2,389,884 JBrowse link
G LOC106865369 nucleoporin 98kDa recombination region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,731,687...3,753,315 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta
ClinVar Annotator: match by term: Delta-beta-thalassemia 		ClinVar PMID:14973 PMID:81926 PMID:88735 PMID:750553 PMID:893136 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC109623489 insulin repeat instability region IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,161,574...2,161,971 JBrowse link
G LOC109951029 delta-globin 5' regulatory region IAGP ClinVar Annotator: match by term: Delta-plus-thalassemia
ClinVar Annotator: match by term: Delta-beta-thalassemia
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta 		ClinVar PMID:2798417 PMID:9207479 PMID:11939506 PMID:15921167 PMID:16434382 More... NCBI chr11:5,234,433...5,239,383 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin
ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta
ClinVar Annotator: match by term: Delta-beta-thalassemia 		ClinVar PMID:14973 PMID:750553 PMID:893136 PMID:1112610 PMID:1177278 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
G LOC110008579 hereditary persistence of fetal hemoglobin-3 3' breakpoint enhancer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,193,634...5,194,446 JBrowse link
G LOC110011217 hereditary persistence of fetal hemoglobin-1 and -2 3' breakpoint enhancers IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,147,154...5,160,466 JBrowse link
G LOC110013311 hereditary persistence of fetal hemoglobin-6 3' breakpoint enhancer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,170,745...5,172,221 JBrowse link
G LOC110121378 VISTA enhancer hs1488 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,963,276...1,966,142 JBrowse link
G LOC111718490 skeletal muscle cis-regulatory module in IFITM10 intron IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,743,601...1,743,959 JBrowse link
G LOC112067719 Sharpr-MPRA regulatory region 13774 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,992,299...2,992,593 JBrowse link
G LOC112067720 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3400077-3400640 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,378,847...3,379,410 JBrowse link
G LOC112081391 Sharpr-MPRA regulatory region 4669 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,859,579...3,859,885 JBrowse link
G LOC113939920 Sharpr-MPRA regulatory region 10946 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,566,499...2,566,793 JBrowse link
G LOC116216127 CRISPRi-validated cis-regulatory element chr11.592 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,867,156...2,868,924 JBrowse link
G LOC116216128 CRISPRi-validated cis-regulatory element chr11.762 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,658,741...4,659,286 JBrowse link
G LOC121392887 Sharpr-MPRA regulatory region 11801 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:818,669...818,963 JBrowse link
G LOC121392888 Sharpr-MPRA regulatory region 4982 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:919,209...919,503 JBrowse link
G LOC121832782 Sharpr-MPRA regulatory region 4967 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,903,579...3,903,873 JBrowse link
G LOC121832783 Sharpr-MPRA regulatory region 1570 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,072,719...4,073,013 JBrowse link
G LOC124418411 Sharpr-MPRA regulatory region 3787 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:642,266...642,943 JBrowse link
G LOC124418412 Sharpr-MPRA regulatory region 620 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:946,069...946,363 JBrowse link
G LOC124418413 Sharpr-MPRA regulatory region 10567 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,673,899...1,674,193 JBrowse link
G LOC124418414 Sharpr-MPRA regulatory region 3604 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,299,259...2,299,553 JBrowse link
G LOC124418415 Sharpr-MPRA regulatory region 9407 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,428,199...2,428,493 JBrowse link
G LOC124418416 Sharpr-MPRA regulatory region 11059 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,463,139...2,463,433 JBrowse link
G LOC124418418 Sharpr-MPRA regulatory region 6583 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,124,439...3,124,733 JBrowse link
G LOC124418419 Sharpr-MPRA regulatory region 4578 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,401,039...3,401,333 JBrowse link
G LOC124418420 Sharpr-MPRA regulatory region 12872 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,958,979...3,959,273 JBrowse link
G LOC124418421 Sharpr-MPRA regulatory region 9588 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,091,459...4,091,753 JBrowse link
G LOC126861109 BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:673,917...675,116 JBrowse link
G LOC126861110 CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:762,588...763,787 JBrowse link
G LOC126861111 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,060,443...1,061,642 JBrowse link
G LOC126861112 CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,192,954...1,194,152 JBrowse link
G LOC126861113 BRD4-independent group 4 enhancer GRCh37_chr11:1640412-1641611 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,619,182...1,620,381 JBrowse link
G LOC126861114 MED14-independent group 3 enhancer GRCh37_chr11:1918050-1919249 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,896,820...1,898,019 JBrowse link
G LOC126861115 BRD4-independent group 4 enhancer GRCh37_chr11:3061281-3062480 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,040,051...3,041,250 JBrowse link
G LOC126861116 BRD4-independent group 4 enhancer GRCh37_chr11:4406895-4408094 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,385,665...4,386,864 JBrowse link
G LOC126861117 MED14-independent group 3 enhancer GRCh37_chr11:4485052-4486251 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,463,822...4,465,021 JBrowse link
G LOC126861118 BRD4-independent group 4 enhancer GRCh37_chr11:4516376-4517575 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,495,146...4,496,345 JBrowse link
G LOC129388416 MPRA-validated peak1178 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,735,866...3,736,066 JBrowse link
G LOC129388417 MPRA-validated peak1179 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,745,246...3,745,446 JBrowse link
G LOC129390247 MPRA-validated peak1160 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,400,105...1,400,305 JBrowse link
G LOC129390248 MPRA-validated peak1163 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,528,806...2,529,006 JBrowse link
G LOC129390249 MPRA-validated peak1165 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,966,326...2,966,526 JBrowse link
G LOC129390250 MPRA-validated peak1169 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,073,065...3,073,265 JBrowse link
G LOC129390251 MPRA-validated peak1172 silencer IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,427,556...3,427,756 JBrowse link
G LOC130005075 ATAC-STARR-seq lymphoblastoid silent region 3015 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:706,048...706,177 JBrowse link
G LOC130005076 ATAC-STARR-seq lymphoblastoid silent region 3016 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:720,719...720,978 JBrowse link
G LOC130005077 ATAC-STARR-seq lymphoblastoid silent region 3017 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:721,009...721,058 JBrowse link
G LOC130005078 ATAC-STARR-seq lymphoblastoid silent region 3018 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:721,089...721,238 JBrowse link
G LOC130005079 ATAC-STARR-seq lymphoblastoid silent region 3019 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:722,169...722,218 JBrowse link
G LOC130005080 ATAC-STARR-seq lymphoblastoid silent region 3020 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:725,756...726,055 JBrowse link
G LOC130005081 ATAC-STARR-seq lymphoblastoid silent region 3021 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:726,536...726,725 JBrowse link
G LOC130005082 ATAC-STARR-seq lymphoblastoid silent region 3022 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:728,327...728,416 JBrowse link
G LOC130005083 ATAC-STARR-seq lymphoblastoid silent region 3025 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:747,975...748,064 JBrowse link
G LOC130005084 ATAC-STARR-seq lymphoblastoid silent region 3026 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:776,908...777,117 JBrowse link
G LOC130005085 ATAC-STARR-seq lymphoblastoid silent region 3027 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:777,128...777,837 JBrowse link
G LOC130005086 ATAC-STARR-seq lymphoblastoid silent region 3028 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:777,888...777,987 JBrowse link
G LOC130005087 ATAC-STARR-seq lymphoblastoid silent region 3029 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:790,001...790,230 JBrowse link
G LOC130005088 ATAC-STARR-seq lymphoblastoid silent region 3032 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:796,236...796,305 JBrowse link
G LOC130005089 ATAC-STARR-seq lymphoblastoid active region 4279 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:797,126...797,195 JBrowse link
G LOC130005090 ATAC-STARR-seq lymphoblastoid active region 4280 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:797,266...797,325 JBrowse link
G LOC130005091 ATAC-STARR-seq lymphoblastoid active region 4281 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:797,466...797,635 JBrowse link
G LOC130005092 ATAC-STARR-seq lymphoblastoid silent region 3034 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:804,860...805,579 JBrowse link
G LOC130005093 ATAC-STARR-seq lymphoblastoid active region 4284 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:808,903...809,192 JBrowse link
G LOC130005094 ATAC-STARR-seq lymphoblastoid active region 4285 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:809,203...809,302 JBrowse link
G LOC130005095 ATAC-STARR-seq lymphoblastoid active region 4286 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:809,453...809,642 JBrowse link
G LOC130005096 ATAC-STARR-seq lymphoblastoid silent region 3035 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:810,013...810,282 JBrowse link
G LOC130005097 ATAC-STARR-seq lymphoblastoid silent region 3036 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:819,159...820,048 JBrowse link
G LOC130005098 ATAC-STARR-seq lymphoblastoid active region 4287 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:820,499...820,548 JBrowse link
G LOC130005099 ATAC-STARR-seq lymphoblastoid silent region 3038 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:827,882...827,971 JBrowse link
G LOC130005100 ATAC-STARR-seq lymphoblastoid silent region 3039 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:830,166...830,775 JBrowse link
G LOC130005101 ATAC-STARR-seq lymphoblastoid silent region 3040 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:832,628...833,277 JBrowse link
G LOC130005102 ATAC-STARR-seq lymphoblastoid silent region 3041 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:833,288...833,517 JBrowse link
G LOC130005103 ATAC-STARR-seq lymphoblastoid silent region 3042 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:840,013...840,062 JBrowse link
G LOC130005104 ATAC-STARR-seq lymphoblastoid silent region 3044 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:843,031...843,120 JBrowse link
G LOC130005105 ATAC-STARR-seq lymphoblastoid silent region 3045 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:843,141...843,370 JBrowse link
G LOC130005106 ATAC-STARR-seq lymphoblastoid silent region 3046 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:848,457...848,586 JBrowse link
G LOC130005107 ATAC-STARR-seq lymphoblastoid silent region 3047 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:849,363...849,422 JBrowse link
G LOC130005108 ATAC-STARR-seq lymphoblastoid silent region 3048 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:910,493...911,332 JBrowse link
G LOC130005109 ATAC-STARR-seq lymphoblastoid silent region 3049 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:925,682...926,221 JBrowse link
G LOC130005110 ATAC-STARR-seq lymphoblastoid silent region 3050 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,260,107...1,260,336 JBrowse link
G LOC130005111 ATAC-STARR-seq lymphoblastoid active region 4288 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,264,603...1,264,662 JBrowse link
G LOC130005112 ATAC-STARR-seq lymphoblastoid silent region 3052 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,309,088...1,309,797 JBrowse link
G LOC130005113 ATAC-STARR-seq lymphoblastoid silent region 3053 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,311,323...1,311,452 JBrowse link
G LOC130005114 ATAC-STARR-seq lymphoblastoid silent region 3054 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,382,998...1,383,447 JBrowse link
G LOC130005115 ATAC-STARR-seq lymphoblastoid silent region 3055 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,389,331...1,389,700 JBrowse link
G LOC130005116 ATAC-STARR-seq lymphoblastoid silent region 3056 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,515,566...1,515,755 JBrowse link
G LOC130005117 ATAC-STARR-seq lymphoblastoid active region 4289 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,521,959...1,522,208 JBrowse link
G LOC130005118 ATAC-STARR-seq lymphoblastoid silent region 3057 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,763,497...1,763,586 JBrowse link
G LOC130005119 ATAC-STARR-seq lymphoblastoid silent region 3058 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,763,837...1,764,306 JBrowse link
G LOC130005120 ATAC-STARR-seq lymphoblastoid silent region 3059 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,832,519...1,832,728 JBrowse link
G LOC130005121 ATAC-STARR-seq lymphoblastoid silent region 3060 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,832,789...1,832,848 JBrowse link
G LOC130005122 ATAC-STARR-seq lymphoblastoid silent region 3061 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,837,815...1,837,924 JBrowse link
G LOC130005123 ATAC-STARR-seq lymphoblastoid silent region 3062 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,840,137...1,840,256 JBrowse link
G LOC130005124 ATAC-STARR-seq lymphoblastoid silent region 3063 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,840,297...1,840,416 JBrowse link
G LOC130005125 ATAC-STARR-seq lymphoblastoid active region 4290 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,844,620...1,844,719 JBrowse link
G LOC130005126 ATAC-STARR-seq lymphoblastoid active region 4291 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,851,815...1,851,864 JBrowse link
G LOC130005127 ATAC-STARR-seq lymphoblastoid active region 4292 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,852,856...1,853,175 JBrowse link
G LOC130005128 ATAC-STARR-seq lymphoblastoid active region 4293 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,855,026...1,855,455 JBrowse link
G LOC130005129 ATAC-STARR-seq lymphoblastoid active region 4294 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,882,020...1,882,229 JBrowse link
G LOC130005130 ATAC-STARR-seq lymphoblastoid silent region 3064 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,916,421...1,916,470 JBrowse link
G LOC130005131 ATAC-STARR-seq lymphoblastoid active region 4295 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,917,021...1,917,070 JBrowse link
G LOC130005132 ATAC-STARR-seq lymphoblastoid silent region 3065 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,376,982...2,377,421 JBrowse link
G LOC130005133 ATAC-STARR-seq lymphoblastoid silent region 3066 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,377,842...2,378,041 JBrowse link
G LOC130005134 ATAC-STARR-seq lymphoblastoid active region 4296 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,383,050...2,383,159 JBrowse link
G LOC130005135 ATAC-STARR-seq lymphoblastoid active region 4297 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,383,550...2,383,609 JBrowse link
G LOC130005136 ATAC-STARR-seq lymphoblastoid silent region 3067 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,386,790...2,386,859 JBrowse link
G LOC130005137 ATAC-STARR-seq lymphoblastoid active region 4298 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,387,380...2,387,429 JBrowse link
G LOC130005138 ATAC-STARR-seq lymphoblastoid silent region 3068 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,394,639...2,394,698 JBrowse link
G LOC130005139 ATAC-STARR-seq lymphoblastoid active region 4300 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,394,829...2,395,008 JBrowse link
G LOC130005140 ATAC-STARR-seq lymphoblastoid active region 4301 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,399,025...2,399,084 JBrowse link
G LOC130005141 ATAC-STARR-seq lymphoblastoid silent region 3069 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,444,808...2,444,917 JBrowse link
G LOC130005142 ATAC-STARR-seq lymphoblastoid silent region 3070 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,444,928...2,444,997 JBrowse link
G LOC130005143 ATAC-STARR-seq lymphoblastoid active region 4304 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,467,356...2,467,405 JBrowse link
G LOC130005144 ATAC-STARR-seq lymphoblastoid active region 4305 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,532,696...2,532,805 JBrowse link
G LOC130005145 ATAC-STARR-seq lymphoblastoid silent region 3071 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,621,202...2,621,281 JBrowse link
G LOC130005146 ATAC-STARR-seq lymphoblastoid active region 4306 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,622,034...2,622,203 JBrowse link
G LOC130005147 ATAC-STARR-seq lymphoblastoid silent region 3074 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,902,410...2,902,539 JBrowse link
G LOC130005148 ATAC-STARR-seq lymphoblastoid active region 4307 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,050,101...3,050,170 JBrowse link
G LOC130005149 ATAC-STARR-seq lymphoblastoid silent region 3075 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,110,175...3,110,234 JBrowse link
G LOC130005150 ATAC-STARR-seq lymphoblastoid silent region 3077 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,422,269...3,422,408 JBrowse link
G LOC130005151 ATAC-STARR-seq lymphoblastoid silent region 3078 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,422,439...3,422,578 JBrowse link
G LOC130005152 ATAC-STARR-seq lymphoblastoid silent region 3079 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,423,079...3,423,288 JBrowse link
G LOC130005153 ATAC-STARR-seq lymphoblastoid active region 4309 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,554,733...3,554,882 JBrowse link
G LOC130005154 ATAC-STARR-seq lymphoblastoid silent region 3080 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,581,126...3,581,395 JBrowse link
G LOC130005155 ATAC-STARR-seq lymphoblastoid silent region 3081 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,642,552...3,642,601 JBrowse link
G LOC130005156 ATAC-STARR-seq lymphoblastoid silent region 3082 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,797,231...3,797,320 JBrowse link
G LOC130005157 ATAC-STARR-seq lymphoblastoid silent region 3083 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,797,401...3,797,570 JBrowse link
G LOC130005158 ATAC-STARR-seq lymphoblastoid silent region 3084 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,808,481...3,808,810 JBrowse link
G LOC130005159 ATAC-STARR-seq lymphoblastoid active region 4310 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,839,100...3,839,299 JBrowse link
G LOC130005160 ATAC-STARR-seq lymphoblastoid silent region 3085 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,840,700...3,841,089 JBrowse link
G LOC130005161 ATAC-STARR-seq lymphoblastoid silent region 3086 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,841,140...3,841,189 JBrowse link
G LOC130005162 ATAC-STARR-seq lymphoblastoid silent region 3087 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,841,540...3,841,809 JBrowse link
G LOC130005163 ATAC-STARR-seq lymphoblastoid silent region 3088 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,841,850...3,841,899 JBrowse link
G LOC130005164 ATAC-STARR-seq lymphoblastoid active region 4311 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,854,640...3,854,709 JBrowse link
G LOC130005165 ATAC-STARR-seq lymphoblastoid active region 4312 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,856,080...3,856,289 JBrowse link
G LOC130005166 ATAC-STARR-seq lymphoblastoid active region 4313 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,856,440...3,856,519 JBrowse link
G LOC130005167 ATAC-STARR-seq lymphoblastoid active region 4314 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,856,530...3,856,579 JBrowse link
G LOC130005168 ATAC-STARR-seq lymphoblastoid active region 4315 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,859,366...3,859,545 JBrowse link
G LOC130005169 ATAC-STARR-seq lymphoblastoid active region 4316 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,871,216...3,871,275 JBrowse link
G LOC130005170 ATAC-STARR-seq lymphoblastoid silent region 3093 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,871,496...3,871,585 JBrowse link
G LOC130005171 ATAC-STARR-seq lymphoblastoid active region 4317 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,893,576...3,893,735 JBrowse link
G LOC130005172 ATAC-STARR-seq lymphoblastoid active region 4318 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,894,576...3,894,815 JBrowse link
G LOC130005173 ATAC-STARR-seq lymphoblastoid active region 4319 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,942,931...3,943,060 JBrowse link
G LOC130005174 ATAC-STARR-seq lymphoblastoid active region 4320 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,094,429...4,094,498 JBrowse link
G LOC130005175 ATAC-STARR-seq lymphoblastoid active region 4321 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,094,559...4,095,028 JBrowse link
G LOC130005176 ATAC-STARR-seq lymphoblastoid silent region 3094 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,187,647...4,187,836 JBrowse link
G LOC130005177 ATAC-STARR-seq lymphoblastoid active region 4322 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,393,593...4,393,802 JBrowse link
G LOC130005178 ATAC-STARR-seq lymphoblastoid active region 4323 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,393,823...4,393,882 JBrowse link
G LOC130005179 ATAC-STARR-seq lymphoblastoid active region 4324 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,493,080...4,493,329 JBrowse link
G LOC130005180 ATAC-STARR-seq lymphoblastoid silent region 3095 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,607,796...4,607,875 JBrowse link
G LOC130005181 ATAC-STARR-seq lymphoblastoid silent region 3096 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,608,186...4,608,395 JBrowse link
G LOC132089927 Neanderthal introgressed variant-containing enhancer experimental_21090 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,731,748...2,731,917 JBrowse link
G LOC132089930 Neanderthal introgressed variant-containing enhancer experimental_21160 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,119,794...3,119,963 JBrowse link
G LOC132089931 Neanderthal introgressed variant-containing enhancer experimental_21169 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,197,025...3,197,194 JBrowse link
G LOC132090831 Neanderthal introgressed variant-containing enhancer experimental_21531 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:506,511...506,680 JBrowse link
G LOC132090832 Neanderthal introgressed variant-containing enhancer experimental_21101 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,736,703...2,736,872 JBrowse link
G LOC143666 uncharacterized LOC143666 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:573,808...575,885 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G LSP1 lymphocyte specific protein 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,853,084...1,892,263
Ensembl chr11:1,850,904...1,892,267 		JBrowse link
G MIR210 microRNA 210 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198 		JBrowse link
G MIR210HG MIR210 host gene IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:565,657...568,457
Ensembl chr11:565,657...568,542 		JBrowse link
G MIR4298 microRNA 4298 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,859,464...1,859,536
Ensembl chr11:1,859,464...1,859,536 		JBrowse link
G MIR4686 microRNA 4686 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,173,063...2,173,138
Ensembl chr11:2,173,063...2,173,138 		JBrowse link
G MIR4687 microRNA 4687 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,856,062...3,856,141
Ensembl chr11:3,856,062...3,856,141 		JBrowse link
G MIR483 microRNA 483 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,134,134...2,134,209
Ensembl chr11:2,134,134...2,134,209 		JBrowse link
G MIR6744 microRNA 6744 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,256,605...1,256,670
Ensembl chr11:1,256,605...1,256,670 		JBrowse link
G MIR675 microRNA 675 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,996,759...1,996,831
Ensembl chr11:1,996,759...1,996,831 		JBrowse link
G MIR7847 microRNA 7847 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,880,045...1,880,147
Ensembl chr11:1,880,045...1,880,147 		JBrowse link
G MMP26 matrix metallopeptidase 26 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,704,784...4,992,429
Ensembl chr11:4,704,784...4,992,431 		JBrowse link
G MOB2 MOB kinase activator 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,469,448...1,486,779
Ensembl chr11:1,469,457...1,501,247 		JBrowse link
G MRGPRE MAS related GPR family member E IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,225,030...3,232,417
Ensembl chr11:3,225,030...3,232,417 		JBrowse link
G MRGPRG MAS related GPR family member G IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,217,944...3,218,813
Ensembl chr11:3,217,944...3,218,813 		JBrowse link
G MRGPRG-AS1 MRGPRG antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,218,332...3,223,131
Ensembl chr11:3,217,488...3,223,132 		JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,947,332...2,014,944
Ensembl chr11:1,947,278...1,984,522 		JBrowse link
G MRPL23-AS1 MRPL23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,983,209...1,989,920
Ensembl chr11:1,983,237...1,989,993 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G MUC5B-AS1 MUC5B antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,242,261...1,249,676
Ensembl chr11:1,242,261...1,249,676 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G NAP1L4 nucleosome assembly protein 1 like 4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,944,437...2,992,329
Ensembl chr11:2,944,431...2,992,377 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,675,010...3,797,554
Ensembl chr11:3,671,083...3,797,792 		JBrowse link
G OR51A2 olfactory receptor family 51 subfamily A member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,954,772...4,955,713
Ensembl chr11:4,954,772...4,955,713 		JBrowse link
G OR51A4 olfactory receptor family 51 subfamily A member 4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,942,831...4,947,605
Ensembl chr11:4,942,831...4,947,605 		JBrowse link
G OR51A7 olfactory receptor family 51 subfamily A member 7 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,903,783...4,909,462
Ensembl chr11:4,903,783...4,909,462 		JBrowse link
G OR51C1 olfactory receptor family 51 subfamily C member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,690,423...4,697,853
Ensembl chr11:4,690,423...4,697,853 		JBrowse link
G OR51D1 olfactory receptor family 51 subfamily D member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,637,477...4,643,060
Ensembl chr11:4,637,477...4,643,060 		JBrowse link
G OR51E1 olfactory receptor family 51 subfamily E member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,643,982...4,655,488
Ensembl chr11:4,643,420...4,655,488 		JBrowse link
G OR51E2 olfactory receptor family 51 subfamily E member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,680,171...4,697,853
Ensembl chr11:4,680,171...4,697,854 		JBrowse link
G OR51F1 olfactory receptor family 51 subfamily F member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,768,979...4,769,938
Ensembl chr11:4,768,979...4,769,938 		JBrowse link
G OR51F2 olfactory receptor family 51 subfamily F member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,821,321...4,822,456
Ensembl chr11:4,821,321...4,822,456 		JBrowse link
G OR51G1 olfactory receptor family 51 subfamily G member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,923,374...4,924,339
Ensembl chr11:4,923,374...4,924,339 		JBrowse link
G OR51G2 olfactory receptor family 51 subfamily G member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,912,588...4,919,350
Ensembl chr11:4,912,588...4,919,350 		JBrowse link
G OR51L1 olfactory receptor family 51 subfamily L member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,994,851...5,005,536
Ensembl chr11:4,994,851...5,005,536 		JBrowse link
G OR51S1 olfactory receptor family 51 subfamily S member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,848,237...4,849,208
Ensembl chr11:4,848,237...4,849,208 		JBrowse link
G OR51T1 olfactory receptor family 51 subfamily T member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,881,900...4,882,883
Ensembl chr11:4,881,819...4,882,883 		JBrowse link
G OR51V1 olfactory receptor family 51 subfamily V member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,199,735...5,200,682
Ensembl chr11:5,199,735...5,200,682 		JBrowse link
G OR52A1 olfactory receptor family 52 subfamily A member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,146,824...5,154,757
Ensembl chr11:5,146,824...5,154,757 		JBrowse link
G OR52A5 olfactory receptor family 52 subfamily A member 5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,128,776...5,138,356
Ensembl chr11:5,128,776...5,138,356 		JBrowse link
G OR52B4 olfactory receptor family 52 subfamily B member 4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,367,263...4,368,386
Ensembl chr11:4,367,263...4,368,386 		JBrowse link
G OR52E1 olfactory receptor family 52 subfamily E member 1 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,069,572...5,070,497
Ensembl chr11:5,069,572...5,070,497 		JBrowse link
G OR52E2 olfactory receptor family 52 subfamily E member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,058,650...5,059,627
Ensembl chr11:5,058,650...5,059,627 		JBrowse link
G OR52I1 olfactory receptor family 52 subfamily I member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,594,039...4,595,013
Ensembl chr11:4,594,039...4,595,013 		JBrowse link
G OR52I2 olfactory receptor family 52 subfamily I member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,581,743...4,593,340
Ensembl chr11:4,581,743...4,593,340 		JBrowse link
G OR52J3 olfactory receptor family 52 subfamily J member 3 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:5,046,526...5,047,461
Ensembl chr11:5,046,526...5,047,461 		JBrowse link
G OR52K1 olfactory receptor family 52 subfamily K member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,482,646...4,493,497
Ensembl chr11:4,482,646...4,493,497 		JBrowse link
G OR52K2 olfactory receptor family 52 subfamily K member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,449,295...4,450,361
Ensembl chr11:4,449,295...4,450,361 		JBrowse link
G OR52M1 olfactory receptor family 52 subfamily M member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,545,191...4,546,144
Ensembl chr11:4,545,191...4,546,144 		JBrowse link
G OR52R1 olfactory receptor family 52 subfamily R member 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,803,433...4,804,380
Ensembl chr11:4,803,433...4,804,380 		JBrowse link
G OSBPL5 oxysterol binding protein like 5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,087,107...3,165,310
Ensembl chr11:3,087,107...3,166,739 		JBrowse link
G PANO1 proapoptotic nucleolar protein 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:797,626...799,192
Ensembl chr11:797,511...799,190 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PHLDA2 pleckstrin homology like domain family A member 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,928,273...2,929,420
Ensembl chr11:2,928,273...2,929,420 		JBrowse link
G PHRF1 PHD and ring finger domains 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:576,470...612,222
Ensembl chr11:576,470...612,222 		JBrowse link
G PIDD1 p53-induced death domain protein 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:799,184...809,501
Ensembl chr11:799,179...809,753 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLR2L RNA polymerase II, I and III subunit L IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:839,721...842,529
Ensembl chr11:837,356...842,529 		JBrowse link
G PRADX PRC2 and DDX5 associated lncRNA IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,760,348...1,762,486
Ensembl chr11:1,760,348...1,762,486 		JBrowse link
G PRR33 proline rich 33 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,887,987...1,917,708
Ensembl chr11:1,888,078...1,891,895 		JBrowse link
G RASSF7 Ras association domain family member 7 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:560,970...564,025
Ensembl chr11:560,404...564,025 		JBrowse link
G RHOG ras homolog family member G IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,826,978...3,840,959
Ensembl chr11:3,826,978...3,840,959 		JBrowse link
G RNH1 ribonuclease/angiogenin inhibitor 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:494,515...507,242
Ensembl chr11:494,512...507,300 		JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:809,967...812,876
Ensembl chr11:805,438...812,883 		JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932 		JBrowse link
G SCT secretin IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G SLC22A18AS SLC22A18 antisense RNA IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,887,344...2,903,575
Ensembl chr11:2,887,344...2,903,814 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SNORA52 small nucleolar RNA, H/ACA box 52 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:811,681...811,814
Ensembl chr11:811,681...811,814 		JBrowse link
G SNORA54 small nucleolar RNA, H/ACA box 54 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,963,771...2,963,893
Ensembl chr11:2,963,771...2,963,893 		JBrowse link
G SNORD131 small nucleolar RNA, C/D box 131 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,949,331...1,949,476 JBrowse link
G SSU72L1 SSU72 like 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,338,245...4,339,345
Ensembl chr11:4,338,245...4,339,345 		JBrowse link
G SSU72L2 SSU72 like 2 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,241,641...4,242,706
Ensembl chr11:4,241,641...4,242,706 		JBrowse link
G SSU72L3 SSU72 like 3 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,329,790...4,330,864
Ensembl chr11:4,329,790...4,330,864 		JBrowse link
G SSU72L4 SSU72 like 4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,287,084...4,288,185
Ensembl chr11:4,287,084...4,288,185 		JBrowse link
G SSU72L5 SSU72 like 5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,233,217...4,234,287
Ensembl chr11:4,233,217...4,234,287 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STIM1-AS1 STIM1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,854,323...3,855,578
Ensembl chr11:3,854,318...3,855,606 		JBrowse link
G SYT8 synaptotagmin 8 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,831,784...1,837,521
Ensembl chr11:1,828,307...1,837,521 		JBrowse link
G TALDO1 transaldolase 1 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TMEM80 transmembrane protein 80 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:695,639...705,028
Ensembl chr11:695,591...705,028 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654 		JBrowse link
G TOLLIP-DT TOLLIP divergent transcript IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:1,309,708...1,310,707
Ensembl chr11:1,309,769...1,310,707 		JBrowse link
G TRIM21 tripartite motif containing 21 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,384,897...4,393,702
Ensembl chr11:4,384,897...4,393,702 		JBrowse link
G TRIM68 tripartite motif containing 68 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:4,598,672...4,608,231
Ensembl chr11:4,598,672...4,608,231 		JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,403,991...2,444,514
Ensembl chr11:2,404,515...2,444,514 		JBrowse link
G TSPAN32 tetraspanin 32 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,302,013...2,318,204
Ensembl chr11:2,301,997...2,318,204 		JBrowse link
G TSPAN4 tetraspanin 4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:842,852...867,111
Ensembl chr11:842,812...867,116 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:2,400,750...2,403,876
Ensembl chr11:2,400,488...2,403,878 		JBrowse link
G ZNF195 zinc finger protein 195 IAGP ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta ClinVar PMID:2798417 NCBI chr11:3,357,927...3,379,146
Ensembl chr11:3,339,261...3,379,222 		JBrowse link
Delta-Thalassemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBD hemoglobin subunit delta IAGP ClinVar Annotator: match by term: Delta-0-thalassemia
ClinVar Annotator: match by term: delta Thalassemia 		ClinVar PMID:1301204 PMID:1309671 PMID:1398286 PMID:1515647 PMID:1742490 More... NCBI chr11:5,232,838...5,234,483
Ensembl chr11:5,232,678...5,243,657 		JBrowse link
G LOC106099063 HBD recombination region IAGP ClinVar Annotator: match by term: delta Thalassemia
ClinVar Annotator: match by term: Delta-0-thalassemia 		ClinVar PMID:1301204 PMID:1398286 PMID:1742490 PMID:2018846 PMID:3401592 More... NCBI chr11:5,233,984...5,234,365 JBrowse link
G LOC109951029 delta-globin 5' regulatory region IAGP ClinVar Annotator: match by term: delta Thalassemia ClinVar PMID:1515647 PMID:12402333 NCBI chr11:5,234,433...5,239,383 JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,740,861...40,750,477
Ensembl chr19:40,740,856...40,751,553 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,039,059...8,049,134
Ensembl chr17:8,039,034...8,049,134 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150 		JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,310,241...8,322,511
Ensembl chr17:8,310,241...8,322,514 		JBrowse link
G ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,428,563...23,484,631
Ensembl chr 1:23,428,563...23,484,637 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G AURKB aurora kinase B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600 		JBrowse link
G AXL AXL receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,425,359...41,428,730
Ensembl chr19:41,425,359...41,428,730 		JBrowse link
G B9D2 B9 domain containing 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G BLVRB biliverdin reductase B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180 		JBrowse link
G BRDT bromodomain testis associated IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BTBD8 BTB domain containing 8 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,080,345...92,184,723
Ensembl chr 1:92,080,305...92,184,725 		JBrowse link
G C19orf47 chromosome 19 open reading frame 47 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527 		JBrowse link
G C1orf146 chromosome 1 open reading frame 146 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,217,915...92,245,813
Ensembl chr 1:92,217,915...92,245,813 		JBrowse link
G CCDC97 coiled-coil domain containing 97 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,310,172...41,324,873
Ensembl chr19:41,310,172...41,324,873 		JBrowse link
G CCNP cyclin P IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697 		JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CDC7 cell division cycle 7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,500,851...91,525,764
Ensembl chr 1:91,500,851...91,525,764 		JBrowse link
G CEACAM21 CEA cell adhesion molecule 21 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,549,518...41,586,844
Ensembl chr19:41,549,518...41,586,844 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM4 CEA cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,613,436...41,627,074
Ensembl chr19:41,619,015...41,627,074 		JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,708,626...41,730,433
Ensembl chr19:41,708,585...41,730,433 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CEACAM7 CEA cell adhesion molecule 7 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,673,303...41,688,270
Ensembl chr19:41,673,303...41,706,976 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CIC capicua transcriptional repressor IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797 		JBrowse link
G CLC Charcot-Leyden crystal galectin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029 		JBrowse link
G CNFN cornifelin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,387,019...42,390,297
Ensembl chr19:42,387,019...42,390,297 		JBrowse link
G CNR2 cannabinoid receptor 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,858,003...7,862,282
Ensembl chr17:7,857,746...7,862,282 		JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A member 13 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,088,451...41,096,195
Ensembl chr19:41,088,451...41,096,195 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G CYP2A7 cytochrome P450 family 2 subfamily A member 7 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,875,439...40,882,231
Ensembl chr19:40,875,439...40,882,752 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,114,432...41,128,381
Ensembl chr19:41,114,432...41,128,381 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,193,219...41,207,539
Ensembl chr19:41,193,210...41,207,539 		JBrowse link
G DEDD2 death effector domain containing 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,198,598...42,220,134
Ensembl chr19:42,198,598...42,220,140 		JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
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 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DMAC2 distal membrane arm assembly component 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,431,318...41,439,912
Ensembl chr19:41,431,318...41,440,717 		JBrowse link
G DMRTC2 DMRT like family C2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,844,916...41,852,333
Ensembl chr19:41,844,743...41,852,333 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G E2F2 E2F transcription factor 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,505,212...23,531,233
Ensembl chr 1:23,506,438...23,531,233 		JBrowse link
G EFNB3 ephrin B3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,705,202...7,711,372
Ensembl chr17:7,705,202...7,711,372 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,799,191...40,808,434
Ensembl chr19:40,798,996...40,808,434 		JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161 		JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852 		JBrowse link
G ELOA elongin A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,743,471...23,762,059
Ensembl chr 1:23,743,448...23,762,059 		JBrowse link
G EPHX4 epoxide hydrolase 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,029,985...92,063,538
Ensembl chr 1:92,029,985...92,063,538 		JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ERICH4 glutamate rich 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,443,156...41,444,765
Ensembl chr19:41,443,156...41,444,765 		JBrowse link
G EVI5 ecotropic viral integration site 5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,508,696...92,792,410
Ensembl chr 1:92,508,696...92,792,404 		JBrowse link
G EXOSC5 exosome component 5 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G FBL fibrillarin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379 		JBrowse link
G FCGBP Fc gamma binding protein IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 ISS 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 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Diamond-Blackfan anemia
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:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G GH1 growth hormone 1 treatment IDA RGD PMID:25492299 RGD:11352737 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GLMN glomulin, FKBP associated protein IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987 		JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,262,557...41,307,787
Ensembl chr19:41,262,496...41,307,787 		JBrowse link
G HTR1D 5-hydroxytryptamine receptor 1D IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,191,895...23,217,502
Ensembl chr 1:23,191,895...23,217,502 		JBrowse link
G ID3 inhibitor of DNA binding 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,557,926...23,559,501
Ensembl chr 1:23,557,926...23,559,501 		JBrowse link
G IFNLR1 interferon lambda receptor 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,154,168...24,187,289
Ensembl chr 1:24,154,168...24,187,959 		JBrowse link
G IL22RA1 interleukin 22 receptor subunit alpha 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,119,771...24,143,140
Ensembl chr 1:24,119,771...24,143,140 		JBrowse link
G IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome
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 chr 3:197,889,077...197,960,177
Ensembl chr 3:197,889,077...197,960,142 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,717,112...40,740,860
Ensembl chr19:40,717,112...40,740,860 		JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,921,859...7,929,856
Ensembl chr17:7,921,859...7,929,856 		JBrowse link
G KDM1A lysine demethylase 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM6B lysine demethylase 6B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796 		JBrowse link
G KLF1 KLF transcription factor 1 IEP mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KRBA2 KRAB-A domain containing 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,358,822...8,376,704
Ensembl chr17:8,356,902...8,376,704 		JBrowse link
G LEUTX leucine twenty homeobox IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291 		JBrowse link
G LGALS13 galectin 13 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474 		JBrowse link
G LGALS14 galectin 14 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444 		JBrowse link
G LGALS16 galectin 16 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647 		JBrowse link
G LINC00324 long intergenic non-protein coding RNA 324 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,220,630...8,224,043
Ensembl chr17:8,220,616...8,224,079 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LOC100128288 uncharacterized LOC100128288 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,358,413...8,360,541 JBrowse link
G LOC105371520 uncharacterized LOC105371520 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,174,110...8,182,812 JBrowse link
G LOC106794092 nonconserved acetylation island sequence 72 enhancer IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,199,936...8,200,425 JBrowse link
G LOC112533665 H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,857,256...7,858,118 JBrowse link
G LOC112939935 Sharpr-MPRA regulatory region 11886 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 4:39,458,869...39,459,163 JBrowse link
G LOC116276454 CRISPRi-validated cis-regulatory element chr17.641 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,304,515...8,304,903 JBrowse link
G LOC119407405 CRISPRi-FlowFISH-validated PLP2 regulatory element 6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia 		ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr  X:48,793,298...48,793,798 JBrowse link
G LOC121587574 H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,850,859...7,852,787 JBrowse link
G LOC121587575 Sharpr-MPRA regulatory region 8148 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,152,351...8,152,645 JBrowse link
G LOC124904106 translation initiation factor IF-2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,835,408...7,845,528 JBrowse link
G LOC126862483 BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,686,360...7,687,580 JBrowse link
G LOC126862484 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,893,748...7,894,947 JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC129390832 MPRA-validated peak2715 silencer IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,967,838...7,968,038 JBrowse link
G LOC129929673 ATAC-STARR-seq lymphoblastoid active region 374 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:23,691,768...23,692,087 JBrowse link
G LOC130004143 ATAC-STARR-seq lymphoblastoid active region 3612 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:27029625 NCBI chr10:78,029,435...78,029,684 JBrowse link
G LOC130004144 ATAC-STARR-seq lymphoblastoid active region 3613 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome 		ClinVar PMID:19689926 PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr10:78,033,663...78,034,192 JBrowse link
G LOC130060171 ATAC-STARR-seq lymphoblastoid silent region 8136 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,685,851...7,685,910 JBrowse link
G LOC130060172 ATAC-STARR-seq lymphoblastoid active region 11641 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,686,211...7,686,340 JBrowse link
G LOC130060173 ATAC-STARR-seq lymphoblastoid active region 11643 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,688,379...7,688,428 JBrowse link
G LOC130060174 ATAC-STARR-seq lymphoblastoid silent region 8137 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,822,810...7,822,859 JBrowse link
G LOC130060175 ATAC-STARR-seq lymphoblastoid silent region 8138 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,822,870...7,822,919 JBrowse link
G LOC130060176 ATAC-STARR-seq lymphoblastoid silent region 8139 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,834,189...7,834,348 JBrowse link
G LOC130060177 ATAC-STARR-seq lymphoblastoid silent region 8140 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,835,599...7,836,018 JBrowse link
G LOC130060178 ATAC-STARR-seq lymphoblastoid silent region 8141 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,836,039...7,836,098 JBrowse link
G LOC130060179 ATAC-STARR-seq lymphoblastoid active region 11645 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,836,719...7,836,768 JBrowse link
G LOC130060180 ATAC-STARR-seq lymphoblastoid silent region 8142 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,837,639...7,837,788 JBrowse link
G LOC130060181 ATAC-STARR-seq lymphoblastoid silent region 8143 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,841,693...7,841,852 JBrowse link
G LOC130060182 ATAC-STARR-seq lymphoblastoid active region 11646 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,842,383...7,842,692 JBrowse link
G LOC130060183 ATAC-STARR-seq lymphoblastoid silent region 8144 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,844,003...7,844,192 JBrowse link
G LOC130060184 ATAC-STARR-seq lymphoblastoid silent region 8145 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,844,733...7,844,952 JBrowse link
G LOC130060185 ATAC-STARR-seq lymphoblastoid active region 11647 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,845,103...7,845,222 JBrowse link
G LOC130060186 ATAC-STARR-seq lymphoblastoid active region 11650 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,856,644...7,856,723 JBrowse link
G LOC130060187 ATAC-STARR-seq lymphoblastoid silent region 8146 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,885,522...7,885,601 JBrowse link
G LOC130060188 ATAC-STARR-seq lymphoblastoid active region 11653 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,885,852...7,885,901 JBrowse link
G LOC130060189 ATAC-STARR-seq lymphoblastoid silent region 8147 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,887,652...7,887,811 JBrowse link
G LOC130060190 ATAC-STARR-seq lymphoblastoid silent region 8148 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,915,919...7,916,228 JBrowse link
G LOC130060191 ATAC-STARR-seq lymphoblastoid active region 11654 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,931,660...7,931,899 JBrowse link
G LOC130060192 ATAC-STARR-seq lymphoblastoid active region 11655 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,240...7,932,289 JBrowse link
G LOC130060193 ATAC-STARR-seq lymphoblastoid active region 11656 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,510...7,932,569 JBrowse link
G LOC130060194 ATAC-STARR-seq lymphoblastoid active region 11657 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,600...7,932,889 JBrowse link
G LOC130060195 ATAC-STARR-seq lymphoblastoid silent region 8149 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,079,622...8,079,801 JBrowse link
G LOC130060196 ATAC-STARR-seq lymphoblastoid active region 11660 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,079,862...8,079,971 JBrowse link
G LOC130060197 ATAC-STARR-seq lymphoblastoid silent region 8150 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,093,919...8,093,998 JBrowse link
G LOC130060198 ATAC-STARR-seq lymphoblastoid silent region 8151 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,110,165...8,110,494 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,126,515...8,126,704 JBrowse link
G LOC130060207 ATAC-STARR-seq lymphoblastoid active region 11665 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,126,955...8,127,034 JBrowse link
G LOC130060208 ATAC-STARR-seq lymphoblastoid silent region 8160 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,138,832...8,138,891 JBrowse link
G LOC130060209 ATAC-STARR-seq lymphoblastoid silent region 8161 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,138,912...8,139,081 JBrowse link
G LOC130060210 ATAC-STARR-seq lymphoblastoid silent region 8162 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,139,442...8,139,491 JBrowse link
G LOC130060211 ATAC-STARR-seq lymphoblastoid active region 11666 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,151,028...8,151,137 JBrowse link
G LOC130060212 ATAC-STARR-seq lymphoblastoid silent region 8163 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,151,298...8,151,397 JBrowse link
G LOC130060213 ATAC-STARR-seq lymphoblastoid silent region 8164 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,156,276...8,156,535 JBrowse link
G LOC130060214 ATAC-STARR-seq lymphoblastoid active region 11668 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,157,036...8,157,095 JBrowse link
G LOC130060215 ATAC-STARR-seq lymphoblastoid active region 11669 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,158,646...8,158,885 JBrowse link
G LOC130060216 ATAC-STARR-seq lymphoblastoid silent region 8165 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,159,006...8,159,055 JBrowse link
G LOC130060217 ATAC-STARR-seq lymphoblastoid active region 11670 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,162,116...8,162,165 JBrowse link
G LOC130060218 ATAC-STARR-seq lymphoblastoid silent region 8166 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,162,276...8,162,385 JBrowse link
G LOC130060219 ATAC-STARR-seq lymphoblastoid silent region 8167 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,162,676...8,162,865 JBrowse link
G LOC130060220 ATAC-STARR-seq lymphoblastoid silent region 8168 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,163,026...8,163,125 JBrowse link
G LOC130060221 ATAC-STARR-seq lymphoblastoid silent region 8169 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,163,256...8,163,315 JBrowse link
G LOC130060222 ATAC-STARR-seq lymphoblastoid active region 11671 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,173,035...8,173,124 JBrowse link
G LOC130060223 ATAC-STARR-seq lymphoblastoid active region 11672 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,173,605...8,173,784 JBrowse link
G LOC130060224 ATAC-STARR-seq lymphoblastoid active region 11673 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,175,768...8,175,817 JBrowse link
G LOC130060225 ATAC-STARR-seq lymphoblastoid active region 11674 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,175,868...8,175,927 JBrowse link
G LOC130060226 ATAC-STARR-seq lymphoblastoid silent region 8170 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,339...8,186,388 JBrowse link
G LOC130060227 ATAC-STARR-seq lymphoblastoid active region 11679 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,619...8,186,728 JBrowse link
G LOC130060228 ATAC-STARR-seq lymphoblastoid silent region 8171 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,889...8,186,938 JBrowse link
G LOC130060229 ATAC-STARR-seq lymphoblastoid silent region 8172 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,187,189...8,187,298 JBrowse link
G LOC130060230 ATAC-STARR-seq lymphoblastoid active region 11680 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,188,159...8,188,208 JBrowse link
G LOC130060231 ATAC-STARR-seq lymphoblastoid active region 11682 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,192,457...8,192,556 JBrowse link
G LOC130060232 ATAC-STARR-seq lymphoblastoid active region 11683 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,196,027...8,196,336 JBrowse link
G LOC130060233 ATAC-STARR-seq lymphoblastoid active region 11686 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,221,877...8,222,016 JBrowse link
G LOC130060234 ATAC-STARR-seq lymphoblastoid silent region 8176 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,277...8,222,346 JBrowse link
G LOC130060235 ATAC-STARR-seq lymphoblastoid active region 11687 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,397...8,222,596 JBrowse link
G LOC130060236 ATAC-STARR-seq lymphoblastoid silent region 8177 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,807...8,222,856 JBrowse link
G LOC130060237 ATAC-STARR-seq lymphoblastoid active region 11690 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,247,853...8,247,992 JBrowse link
G LOC130060238 ATAC-STARR-seq lymphoblastoid silent region 8178 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,248,083...8,248,132 JBrowse link
G LOC130060239 ATAC-STARR-seq lymphoblastoid active region 11691 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,248,473...8,248,592 JBrowse link
G LOC130060240 ATAC-STARR-seq lymphoblastoid active region 11692 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,288,333...8,288,562 JBrowse link
G LOC130060241 ATAC-STARR-seq lymphoblastoid active region 11693 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,288,923...8,289,042 JBrowse link
G LOC130060242 ATAC-STARR-seq lymphoblastoid silent region 8179 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,289,123...8,289,172 JBrowse link
G LOC130060243 ATAC-STARR-seq lymphoblastoid active region 11694 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,289,323...8,289,392 JBrowse link
G LOC130060244 ATAC-STARR-seq lymphoblastoid active region 11695 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,295,120...8,295,199 JBrowse link
G LOC130060245 ATAC-STARR-seq lymphoblastoid active region 11696 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,295,220...8,295,269 JBrowse link
G LOC130060246 ATAC-STARR-seq lymphoblastoid active region 11697 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,295,890...8,296,019 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,835,075...41,844,871
Ensembl chr19:41,837,074...41,844,697 		JBrowse link
G LYPLA2 lysophospholipase 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,791,145...23,795,539
Ensembl chr 1:23,791,110...23,795,539 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575 		JBrowse link
G MDS2 myelodysplastic syndrome 2 translocation associated IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,627,334...23,640,568
Ensembl chr 1:23,581,495...23,640,574 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MIA MIA SH3 domain containing IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,775,160...40,777,490
Ensembl chr19:40,771,648...40,777,490 		JBrowse link
G MIR4314 microRNA 4314 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,088,056...8,088,147
Ensembl chr17:8,088,056...8,088,147 		JBrowse link
G MIR4521 microRNA 4521 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,945...8,187,004
Ensembl chr17:8,186,945...8,187,004 		JBrowse link
G MIR6797 microRNA 6797 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20960466 PMID:24675553 More... NCBI chr19:41,869,627...41,869,698
Ensembl chr19:41,869,627...41,869,698 		JBrowse link
G MIR6883 microRNA 6883 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,144,994...8,145,071
Ensembl chr17:8,144,994...8,145,071 		JBrowse link
G MYOM3 myomesin 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,056,041...24,112,135
Ensembl chr 1:24,056,035...24,112,135 		JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238 		JBrowse link
G NUMBL NUMB like endocytic adaptor protein IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,665,905...40,690,651
Ensembl chr19:40,665,905...40,690,972 		JBrowse link
G ODF4 outer dense fiber of sperm tails 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,339,840...8,346,046
Ensembl chr17:8,339,840...8,346,048 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,297,033...42,302,800
Ensembl chr19:42,297,033...42,303,546 		JBrowse link
G PER1 period circadian regulator 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,140,472...8,152,404
Ensembl chr17:8,140,467...8,156,506 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		JBrowse link
G PITHD1 PITH domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,778,418...23,788,232
Ensembl chr 1:23,778,418...23,788,232 		JBrowse link
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G PNRC2 proline rich nuclear receptor coactivator 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,959,164...23,963,462
Ensembl chr 1:23,956,839...23,963,462 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POU2F2 POU class 2 homeobox 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,086,110...42,197,936
Ensembl chr19:42,086,110...42,196,585 		JBrowse link
G PRR19 proline rich 19 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr19:42,302,132...42,310,814
Ensembl chr19:42,302,098...42,310,814 		JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,778,247...40,796,942
Ensembl chr19:40,778,216...40,796,942 		JBrowse link
G RABAC1 Rab acceptor 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,956,683...41,959,321
Ensembl chr19:41,956,681...41,959,321 		JBrowse link
G RANGRF RAN guanine nucleotide release factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,288,670...8,290,087
Ensembl chr17:8,288,654...8,290,092 		JBrowse link
G RNF227 ring finger protein 227 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,913,324...7,916,318
Ensembl chr17:7,913,339...7,916,289 		JBrowse link
G RPAP2 RNA polymerase II associated protein 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,299,059...92,402,056
Ensembl chr 1:92,299,059...92,402,056 		JBrowse link
G RPL11 ribosomal protein L11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
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 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL17 ribosomal protein L17 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr18:49,488,481...49,492,465
Ensembl chr18:49,488,453...49,492,508 		JBrowse link
G RPL17-C18orf32 RPL17-C18orf32 readthrough IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr18:49,481,178...49,492,465
Ensembl chr18:49,481,681...49,492,479 		JBrowse link
G RPL19 ribosomal protein L19 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia 		ClinVar PMID:25741868 PMID:28492532 NCBI chr17:39,200,283...39,204,732
Ensembl chr17:39,200,283...39,204,840 		JBrowse link
G RPL26 ribosomal protein L26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
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 chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL35A ribosomal protein L35a IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome
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 chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
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 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL9 ribosomal protein L9 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
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 chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS10-NUDT3 RPS10-NUDT3 readthrough IAGP ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
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:23718193 More... NCBI chr 6:34,287,194...34,426,069
Ensembl chr 6:34,284,887...34,426,071 		JBrowse link
G RPS16 ribosomal protein S16 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949 		JBrowse link
G RPS17 ribosomal protein S17 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 		CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP
EXP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA
ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar Annotator: match by term: AREGENERATIVE ANEMIA, CHRONIC CONGENITAL
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... RGD:1599572, RGD:1599571 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
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 chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS7 ribosomal protein S7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia 		ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G RPSA ribosomal protein SA ISS 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 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,426,255 		JBrowse link
G SCARNA21 small Cajal body-specific RNA 21 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,906,123...7,906,260
Ensembl chr17:7,906,122...7,906,260 		JBrowse link
G SELENOV selenoprotein V IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675 		JBrowse link
G SERTAD1 SERTA domain containing 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,421,589...40,425,992
Ensembl chr19:40,421,589...40,425,992 		JBrowse link
G SERTAD3 SERTA domain containing 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,440,844...40,444,335
Ensembl chr19:40,440,844...40,444,335 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,576,873...40,591,397
Ensembl chr19:40,576,853...40,591,399 		JBrowse link
G SLC25A35 solute carrier family 25 member 35 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,287,763...8,295,400
Ensembl chr17:8,287,763...8,295,400 		JBrowse link
G SNORA66 small nucleolar RNA, H/ACA box 66 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 1:92,840,719...92,840,851
Ensembl chr 1:92,840,719...92,840,851 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G SNORD21 small nucleolar RNA, C/D box 21 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:92,837,289...92,837,383
Ensembl chr 1:92,837,289...92,837,383 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,964,347...23,980,327
Ensembl chr 1:23,964,347...23,980,927 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G TCEA3 transcription elongation factor A3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,380,909...23,424,748
Ensembl chr 1:23,380,909...23,424,748 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM145 transmembrane protein 145 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,313,309...42,325,064
Ensembl chr19:42,313,309...42,325,064 		JBrowse link
G TMEM88 transmembrane protein 88 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,855,066...7,856,099
Ensembl chr17:7,855,066...7,856,099 		JBrowse link
G TMEM91 transmembrane protein 91 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,363,947...41,384,083
Ensembl chr19:41,350,911...41,384,083 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,930,345...7,931,999
Ensembl chr17:7,930,345...7,932,123 		JBrowse link
G TRD-GTC2-11 tRNA-Asp (anticodon GTC) 2-11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,238...8,222,309 JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRG-TCC3-1 tRNA-Gly (anticodon TCC) 3-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,221,548...8,221,619 JBrowse link
G TRI-AAT4-1 tRNA-Ile (anticodon AAT) 4-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,226,991...8,227,064 JBrowse link
G TRI-AAT5-5 tRNA-Ile (anticodon AAT) 5-5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,187,593...8,187,666 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRP-CGG1-3 tRNA-Pro (anticodon CGG) 1-3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,833...8,222,904 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,925...8,121,012 JBrowse link
G TRS-AGA2-6 tRNA-Ser (anticodon AGA) 2-6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,226,610...8,226,691 JBrowse link
G TRS-CGA1-1 tRNA-Ser (anticodon CGA) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,138,881...8,138,962 JBrowse link
G TRS-GCT4-3 tRNA-Ser (anticodon GCT) 4-3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,866...8,186,947 JBrowse link
G TRT-AGT1-1 tRNA-Thr (anticodon AGT) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,187,160...8,187,233 JBrowse link
G TRT-AGT1-2 tRNA-Thr (anticodon AGT) 1-2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,226,235...8,226,308 JBrowse link
G TRT-AGT5-1 tRNA-Thr (anticodon AGT) 5-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,139,452...8,139,525 JBrowse link
G TRW-CCA1-1 tRNA-Trp (anticodon CCA) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,220,869...8,220,940 JBrowse link
G TRW-CCA3-3 tRNA-Trp (anticodon CCA) 3-3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,358...8,186,429 JBrowse link
G TTC9B tetratricopeptide repeat domain 9B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,216,058...40,218,384
Ensembl chr19:40,216,058...40,218,384 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G ZNF436 zinc finger protein 436 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,359,448...23,369,836
Ensembl chr 1:23,359,448...23,369,836 		JBrowse link
G ZNF526 zinc finger protein 526 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
G ZNF546 zinc finger protein 546 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,997,060...40,021,038
Ensembl chr19:39,984,134...40,021,038 		JBrowse link
G ZNF574 zinc finger protein 574 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,068,477...42,081,552
Ensembl chr19:42,068,477...42,081,552 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZNF780A zinc finger protein 780A IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,069,152...40,090,943
Ensembl chr19:40,069,152...40,090,943 		JBrowse link
G ZNF780B zinc finger protein 780B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,028,260...40,056,231
Ensembl chr19:40,028,260...40,056,231 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G MIR6797 microRNA 6797 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:28492532 PMID:29766597 NCBI chr19:41,869,627...41,869,698
Ensembl chr19:41,869,627...41,869,698 		JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar
OMIM		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr12:56,007,504...56,038,435
Ensembl chr12:56,007,659...56,038,435 		JBrowse link
G LOC116268441 CRISPRi-validated cis-regulatory element chr12.2135 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr12:56,047,104...56,047,499 JBrowse link
G RPS26 ribosomal protein S26 IAGP
EXP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G SUOX sulfite oxidase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 OMIM
ClinVar		 PMID:22431104 PMID:25741868 PMID:28492532 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKIRAS1 NFKB inhibitor interacting Ras like 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
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 chr 3:23,889,951...23,946,562
Ensembl chr 3:23,889,951...23,946,591 		JBrowse link
G RPL15 ribosomal protein L15 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition 		ClinVar
OMIM		 PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 13
ClinVar Annotator: match by term: RPS29-related condition 		ClinVar
OMIM		 PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		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 IAGP ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
ClinVar Annotator: match by term: TSR2-related condition 		ClinVar
OMIM		 PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		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 IAGP 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 chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS28 ribosomal protein S28 IAGP ClinVar Annotator: match by term: RPS28-related condition
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 		OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862570 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 ClinVar PMID:25424902 PMID:25741868 NCBI chr17:42,997,976...42,999,175 JBrowse link
G RPL27 ribosomal protein L27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 16
ClinVar Annotator: match by term: RPL27-related condition 		ClinVar
OMIM		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805872 BRD4-independent group 4 enhancer GRCh37_chr1:153962963-153964162 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
ClinVar Annotator: match by term: RPS27-related condition 		ClinVar PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr 1:153,990,487...153,991,686 JBrowse link
G RPS27 ribosomal protein S27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
ClinVar Annotator: match by term: RPS27-related condition 		ClinVar
OMIM		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 18
ClinVar Annotator: match by term: RPL18-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28280134 PMID:28492532 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 19
ClinVar Annotator: match by term: RPL35-related condition 		ClinVar
OMIM		 PMID:28280134 PMID:28492532 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 ClinVar
OMIM		 PMID:27909223 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G LOC130058980 ATAC-STARR-seq lymphoblastoid silent region 7469 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 ClinVar NCBI chr16:50,066,433...50,066,692 JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004144 ATAC-STARR-seq lymphoblastoid active region 3613 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition 		ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr10:78,033,663...78,034,192 JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G RPS24 ribosomal protein S24 IAGP
EXP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		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 IAGP
EXP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 4
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr 3:197,749,533...197,787,596
Ensembl chr 3:197,737,179...197,787,596 		JBrowse link
G IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
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 chr 3:197,889,077...197,960,177
Ensembl chr 3:197,889,077...197,960,142 		JBrowse link
G LRCH3 leucine rich repeats and calponin homology domain containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr 3:197,791,226...197,888,436
Ensembl chr 3:197,791,226...197,888,436 		JBrowse link
G RPL35A ribosomal protein L35a IAGP
EXP 		DNA:deletions, snps:multiple (human)
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) 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535069, RGD:11535072 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G RPL5 ribosomal protein L5 IAGP
ISS 		DNA:snps, duplication, deletions:exons:multiple (human)
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) 		ClinVar
MouseDO
OMIM
RGD		 PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... RGD:11535122, RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129929673 ATAC-STARR-seq lymphoblastoid active region 374 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:23,691,768...23,692,087 JBrowse link
G RPL11 ribosomal protein L11 IAGP
ISS
EXP
ISO 		DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM:612562
CTD Direct Evidence: marker/mechanism
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) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535122, RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,497,366...3,519,531
Ensembl chr 2:3,497,366...3,519,531 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RPS7 ribosomal protein S7 IAGP
EXP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		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 IAGP
EXP 		ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 More... NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS10-NUDT3 RPS10-NUDT3 readthrough IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar PMID:9536098 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 More... NCBI chr 6:34,287,194...34,426,069
Ensembl chr 6:34,284,887...34,426,071 		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 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar
OMIM		 PMID:28283061 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
Diarrhea prodrome + Hemolytic-Uremic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP1BA glycoprotein Ib platelet subunit alpha IAGP associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) RGD PMID:29216383 RGD:42722620 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		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 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
EXP 		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 Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 PMID:30028003 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		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 IAGP
EXP 		ClinVar Annotator: match by term: Elliptocytosis 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1430200 PMID:2384597 PMID:2384598 PMID:3134067 PMID:3194408 More... NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046 		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 IAGP ClinVar Annotator: match by term: Elliptocytosis 2 ClinVar PMID:25741868 NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
EXP 		ClinVar Annotator: match by term: Elliptocytosis 2
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		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 IAGP ClinVar Annotator: match by term: Elliptocytosis 3
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 chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		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 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,799,119...102,841,533
Ensembl chr13:102,799,119...102,841,533 		JBrowse link
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994 		JBrowse link
G CCDC168 coiled-coil domain containing 168 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,729,367...102,759,072
Ensembl chr13:102,729,367...102,759,072 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FGF14 fibroblast growth factor 14 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457 		JBrowse link
G LOC130010073 ATAC-STARR-seq lymphoblastoid silent region 5481 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:28492532 NCBI chr13:102,596,760...102,597,049 JBrowse link
G LOC130010074 ATAC-STARR-seq lymphoblastoid silent region 5482 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:28492532 NCBI chr13:102,597,210...102,597,499 JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,685,747...102,704,300
Ensembl chr13:102,685,747...102,695,044 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,784,281...102,798,976
Ensembl chr13:102,784,281...102,799,040 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:103,043,998...103,066,417
Ensembl chr13:103,043,998...103,066,417 		JBrowse link
G TEX30 testis expressed 30 IAGP ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency ClinVar PMID:25414442 PMID:28492532 NCBI chr13:102,765,888...102,773,786
Ensembl chr13:102,765,888...102,773,811 		JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP 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 chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958 		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 IAGP
EXP 		DNA:mutation:cds:c.412G>A (p.E138K)(human)
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006 		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 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:8103176 PMID:8128956 More... NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,281,697...15,315,640
Ensembl chr  X:15,281,697...15,315,640 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,243,987...15,270,467
Ensembl chr  X:15,235,288...15,270,467 		JBrowse link
G BANP BTG3 associated nuclear protein IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:87,949,238...88,077,318
Ensembl chr16:87,949,244...88,077,318 		JBrowse link
G BMX BMX non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,500,807...15,556,519
Ensembl chr  X:15,464,246...15,556,529 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility IAGP 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 chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia 		CTD
ClinVar		 PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G CA5A carbonic anhydrase 5A IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G CA5B carbonic anhydrase 5B IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,738,270...15,788,411
Ensembl chr  X:15,688,830...15,788,411 		JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,874,858...88,977,207
Ensembl chr16:88,874,858...88,977,207 		JBrowse link
G CDH15 cadherin 15 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,171,748...89,195,492
Ensembl chr16:89,171,748...89,195,492 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPBD1P CENPB DNA-binding domain containing 1, pseudogene IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr16:89,969,775...89,972,496
Ensembl chr16:89,969,983...89,971,922
Ensembl chr16:89,969,983...89,971,922 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G CPNE7 copine 7 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,575,758...89,597,246
Ensembl chr16:89,575,758...89,597,246 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G DBNDD1 dysbindin domain containing 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr16:90,004,871...90,019,890
Ensembl chr16:90,004,871...90,019,890 		JBrowse link
G DEF8 differentially expressed in FDCP 8 homolog IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr16:89,948,755...89,968,060
Ensembl chr16:89,948,697...89,968,060 		JBrowse link
G DORIP1 dopamine receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr14:44,897,275...44,907,257
Ensembl chr14:44,897,275...44,907,257 		JBrowse link
G DPEP1 dipeptidase 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,613,308...89,641,540
Ensembl chr16:89,613,308...89,638,456 		JBrowse link
G FANCA FA complementation group A disease_progression IAGP
EXP 		DNA:missense mutations, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi 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 chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More... NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C onset IAGP
EXP 		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 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 chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP
EXP
IDA 		DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 More... RGD:1601137, RGD:11344904 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Fanconi anemia
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 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G FANCE FA complementation group E IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11001585 PMID:17308347 PMID:17924555 PMID:22778927 PMID:24728327 More... NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP
EXP 		FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP 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
RGD		 PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... RGD:11344925 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L EXP
IAGP 		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 		CTD
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M EXP
IAGP 		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
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:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FKBP3 FKBP prolyl isomerase 3 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr14:45,115,599...45,134,481
Ensembl chr14:45,115,599...45,135,319 		JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand IEP protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231 		JBrowse link
G FSCB fibrous sheath CABYR binding protein IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr14:44,504,149...44,507,283
Ensembl chr14:44,504,149...44,507,283 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GAS8 growth arrest specific 8 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G GAS8-AS1 GAS8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chr16:90,028,908...90,029,901
Ensembl chr16:90,028,908...90,029,901 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression IAGP RGD PMID:16173971 RGD:10450839 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 treatment IAGP RGD PMID:16173971 RGD:10450839
G IFNG interferon gamma IEP protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL10 interleukin 10 IEP protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL17C interleukin 17C IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,638,572...88,640,468
Ensembl chr16:88,638,572...88,640,468 		JBrowse link
G INE2 inactivation escape 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,785,716...15,787,589
Ensembl chr  X:15,785,716...15,787,589 		JBrowse link
G JPH3 junctophilin 3 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G KLHDC4 kelch domain containing 4 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:87,698,146...87,765,986
Ensembl chr16:87,696,485...87,765,992 		JBrowse link
G KLHL28 kelch like family member 28 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr14:44,924,324...44,961,947
Ensembl chr14:44,924,324...45,042,322 		JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC101927817 uncharacterized LOC101927817 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,430,918...89,454,494 JBrowse link
G LOC105376156 uncharacterized LOC105376156 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,386,495...95,426,830
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G LOC106721785 BRCA2 promoter/silencer region IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,314,559...32,315,789 JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9536098 PMID:11239453 PMID:14695169 PMID:16199547 PMID:17096012 More... NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC107303339 3p25 BRK1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,120,032...10,138,833 JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,142,339...10,160,352 JBrowse link
G LOC110121043 VISTA enhancer hs1258 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,495,577...95,497,123 JBrowse link
G LOC112486223 Sharpr-MPRA regulatory region 3988 IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:9371798 PMID:9536098 PMID:9711872 PMID:9721219 PMID:10090479 More... NCBI chr16:89,816,431...89,816,875 JBrowse link
G LOC124310595 Sharpr-MPRA regulatory region 10736 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,129,927...95,130,221 JBrowse link
G LOC124310596 Sharpr-MPRA regulatory region 8238 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,131,367...95,131,661 JBrowse link
G LOC124310597 Sharpr-MPRA regulatory region 1665 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,193,107...95,193,401 JBrowse link
G LOC124310598 Sharpr-MPRA regulatory region 1693 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,268,727...95,269,021 JBrowse link
G LOC124310599 Sharpr-MPRA regulatory region 1060 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,366,807...95,367,101 JBrowse link
G LOC124310600 H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,411,636...95,412,255 JBrowse link
G LOC125177396 Sharpr-MPRA regulatory region 15702 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,910,221...89,910,515 JBrowse link
G LOC126862451 BRD4-independent group 4 enhancer GRCh37_chr16:89900233-89901432 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,833,825...89,835,024 JBrowse link
G LOC128772421 melanoma risk locus-associated MPRA allelic enhancer 16:89913406 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,846,928...89,847,072 JBrowse link
G LOC129388866 MPRA-validated peak3710 silencer IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19405097 PMID:23613520 PMID:28492532 NCBI chr 2:58,163,960...58,164,160 JBrowse link
G LOC129390817 MPRA-validated peak2667 silencer IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:16084127 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,741,638...89,741,838 JBrowse link
G LOC129933782 ATAC-STARR-seq lymphoblastoid silent region 11507 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19405097 PMID:23613520 PMID:28492532 NCBI chr 2:58,240,923...58,240,972 JBrowse link
G LOC129936148 ATAC-STARR-seq lymphoblastoid active region 19416 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,115,483...10,115,772 JBrowse link
G LOC129936149 ATAC-STARR-seq lymphoblastoid active region 19417 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,116,223...10,116,272 JBrowse link
G LOC129996245 ATAC-STARR-seq lymphoblastoid silent region 17092 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:33084842 NCBI chr 6:35,451,989...35,452,888 JBrowse link
G LOC130002126 ATAC-STARR-seq lymphoblastoid silent region 20063 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,116,447...95,116,526 JBrowse link
G LOC130002127 ATAC-STARR-seq lymphoblastoid active region 28637 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,313,167...95,313,226 JBrowse link
G LOC130002128 ATAC-STARR-seq lymphoblastoid silent region 20064 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,317,061...95,317,380 JBrowse link
G LOC130002129 ATAC-STARR-seq lymphoblastoid silent region 20065 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,426,698...95,427,087 JBrowse link
G LOC130002130 ATAC-STARR-seq lymphoblastoid silent region 20067 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,505,892...95,505,951 JBrowse link
G LOC130002131 ATAC-STARR-seq lymphoblastoid silent region 20068 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,506,112...95,506,171 JBrowse link
G LOC130002132 ATAC-STARR-seq lymphoblastoid silent region 20069 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,506,602...95,506,841 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G LOC130005443 ATAC-STARR-seq lymphoblastoid active region 4533 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:16774934 PMID:18271933 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr11:22,624,713...22,624,872 JBrowse link
G LOC130005444 ATAC-STARR-seq lymphoblastoid active region 4534 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:22,624,883...22,624,932 JBrowse link
G LOC130055524 ATAC-STARR-seq lymphoblastoid active region 8299 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29895858 More... NCBI chr14:45,136,084...45,136,133 JBrowse link
G LOC130058346 ATAC-STARR-seq lymphoblastoid active region 10329 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:3,587,408...3,587,477 JBrowse link
G LOC130059837 ATAC-STARR-seq lymphoblastoid active region 11420 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:6720839 PMID:9536098 PMID:9721219 PMID:9929978 PMID:10090479 More... NCBI chr16:89,764,970...89,765,079 JBrowse link
G LOC130059838 ATAC-STARR-seq lymphoblastoid active region 11421 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:10521298 PMID:11344308 PMID:15643609 PMID:16084127 More... NCBI chr16:89,765,240...89,765,309 JBrowse link
G LOC130059839 ATAC-STARR-seq lymphoblastoid silent region 7925 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:16084127 PMID:17924555 PMID:19367192 PMID:21273304 More... NCBI chr16:89,816,151...89,816,200 JBrowse link
G LOC130059840 ATAC-STARR-seq lymphoblastoid active region 11422 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,817,261...89,817,310 JBrowse link
G LOC130059841 ATAC-STARR-seq lymphoblastoid silent region 7927 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,828,529...89,828,618 JBrowse link
G LOC130059842 ATAC-STARR-seq lymphoblastoid active region 11423 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,861,068...89,861,157 JBrowse link
G LOC130059843 ATAC-STARR-seq lymphoblastoid active region 11424 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,864,260...89,864,339 JBrowse link
G LOC130059844 ATAC-STARR-seq lymphoblastoid active region 11425 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,864,400...89,864,489 JBrowse link
G LOC130059845 ATAC-STARR-seq lymphoblastoid silent region 7928 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,873,317...89,873,436 JBrowse link
G LOC130059846 ATAC-STARR-seq lymphoblastoid silent region 7929 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,873,907...89,874,376 JBrowse link
G LOC132089731 Neanderthal introgressed variant-containing enhancer experimental_110513 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,178,246...95,178,415 JBrowse link
G LOC132089732 Neanderthal introgressed variant-containing enhancer experimental_110548 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,241,261...95,241,430 JBrowse link
G LOC132089733 Neanderthal introgressed variant-containing enhancer experimental_110630 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:28492532 NCBI chr 9:95,410,157...95,410,326 JBrowse link
G LOC132090445 Neanderthal introgressed variant-containing enhancer experimental_46704 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9371798 PMID:9721219 PMID:15643609 PMID:16084127 PMID:16199547 More... NCBI chr16:89,740,638...89,740,807 JBrowse link
G LOC132090446 Neanderthal introgressed variant-containing enhancer experimental_46706 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:16084127 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,741,050...89,741,219 JBrowse link
G LOC132090447 Neanderthal introgressed variant-containing enhancer experimental_46707/46708 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:16084127 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,741,335...89,741,504 JBrowse link
G LOC132090448 Neanderthal introgressed variant-containing enhancer experimental_46713 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:16084127 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,743,469...89,743,638 JBrowse link
G LOC132090449 Neanderthal introgressed variant-containing enhancer experimental_46714 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:16084127 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,744,135...89,744,304 JBrowse link
G LOC132090450 Neanderthal introgressed variant-containing enhancer experimental_46718 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:1792455 PMID:1927896 PMID:9371798 PMID:9536098 PMID:9721219 More... NCBI chr16:89,746,701...89,746,870 JBrowse link
G LOC132090451 Neanderthal introgressed variant-containing enhancer experimental_46779 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,822,193...89,822,362 JBrowse link
G LOC132090890 Neanderthal introgressed variant-containing enhancer experimental_46826 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,882,492...89,882,661 JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973 		JBrowse link
G MOSPD2 motile sperm domain containing 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:14,873,421...14,922,327
Ensembl chr  X:14,873,421...14,922,327 		JBrowse link
G MVD mevalonate diphosphate decarboxylase IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,651,940...88,663,091
Ensembl chr16:88,651,935...88,663,161 		JBrowse link
G MX1 MX dynamin like GTPase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071 		JBrowse link
G PABPN1L PABPN1 like, cytoplasmic IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,863,333...88,870,135
Ensembl chr16:88,863,333...88,866,660 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia 		ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIR pirin IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia 		ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,330,208...89,333,809
Ensembl chr15:89,330,208...89,333,809 		JBrowse link
G PRF1 perforin 1 IEP RGD PMID:21542827 RGD:6482802 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
G PRPF39 pre-mRNA processing factor 39 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr14:45,084,116...45,116,282
Ensembl chr14:45,084,107...45,116,282 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAD51C RAD51 paralog C EXP
IAGP 		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 chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RNF166 ring finger protein 166 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,696,501...88,706,408
Ensembl chr16:88,696,499...88,706,408 		JBrowse link
G RPL13 ribosomal protein L13 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,560,657...89,566,829
Ensembl chr16:89,560,677...89,567,834 		JBrowse link
G SLC22A31 solute carrier family 22 member 31 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,195,761...89,201,678
Ensembl chr16:89,195,761...89,201,651 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit EXP
IAGP 		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 chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SNAI3 snail family transcriptional repressor 3 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,677,688...88,686,507
Ensembl chr16:88,677,688...88,686,507 		JBrowse link
G SPATA2L spermatogenesis associated 2 like IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr16:89,696,357...89,701,705
Ensembl chr16:89,696,357...89,701,705 		JBrowse link
G SPATA33 spermatogenesis associated 33 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr16:89,657,776...89,670,458
Ensembl chr16:89,657,740...89,671,272 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPIRE2 spire type actin nucleation factor 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr16:89,828,475...89,871,319
Ensembl chr16:89,818,179...89,871,319 		JBrowse link
G TCF25 TCF25 ribosome quality control complex subunit IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,873,592...89,911,379
Ensembl chr16:89,873,570...89,913,627 		JBrowse link
G TNF tumor necrosis factor IEP
EXP 		protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 PMID:29098742 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G USP1 ubiquitin specific peptidase 1 ISS MouseDO NCBI chr 1:62,436,395...62,451,804
Ensembl chr 1:62,436,297...62,451,804 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VEGFD vascular endothelial growth factor D IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Fanconi anemia
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 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
G VPS9D1 VPS9 domain containing 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chr16:89,707,134...89,720,898
Ensembl chr16:89,707,134...89,720,898 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr 2:57,907,592...58,159,920
Ensembl chr 2:57,907,629...58,159,920 		JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,570,403...88,631,964
Ensembl chr16:88,570,403...88,631,964 		JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,451,769...88,537,031
Ensembl chr16:88,453,280...88,537,031 		JBrowse link
G ZNF276 zinc finger protein 276 IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia 		ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr16:89,720,368...89,740,925
Ensembl chr16:89,720,400...89,740,925 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
G ZNF778 zinc finger protein 778 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr16:89,217,703...89,237,141
Ensembl chr16:89,217,703...89,237,141 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CPNE7 copine 7 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,575,758...89,597,246
Ensembl chr16:89,575,758...89,597,246 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DPEP1 dipeptidase 1 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,613,308...89,641,540
Ensembl chr16:89,613,308...89,638,456 		JBrowse link
G FANCA FA complementation group A IAGP
ISS 		ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
OMIM:227650 		ClinVar
MouseDO
OMIM		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:6720839 More... NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 More... NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532 More... NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:25927356 PMID:28492532 PMID:36622392 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP 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 chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:10,030,947...10,078,653 JBrowse link
G LOC112486220 Sharpr-MPRA regulatory region 14328 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr16:88,315,783...88,316,077 JBrowse link
G LOC112486223 Sharpr-MPRA regulatory region 3988 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A 		ClinVar PMID:9371798 PMID:9711872 PMID:10090479 PMID:10521298 PMID:15516848 More... NCBI chr16:89,816,431...89,816,875 JBrowse link
G LOC130055524 ATAC-STARR-seq lymphoblastoid active region 8299 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33471991 NCBI chr14:45,136,084...45,136,133 JBrowse link
G LOC130059837 ATAC-STARR-seq lymphoblastoid active region 11420 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar Annotator: match by term: FANCA-related condition 		ClinVar PMID:6720839 PMID:9929978 PMID:10090479 PMID:11344308 PMID:12444097 More... NCBI chr16:89,764,970...89,765,079 JBrowse link
G LOC130059838 ATAC-STARR-seq lymphoblastoid active region 11421 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11344308 PMID:15523645 NCBI chr16:89,765,240...89,765,309 JBrowse link
G LOC130059839 ATAC-STARR-seq lymphoblastoid silent region 7925 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:10521298 PMID:19367192 PMID:21273304 PMID:25168418 PMID:25741868 NCBI chr16:89,816,151...89,816,200 JBrowse link
G LOC132090445 Neanderthal introgressed variant-containing enhancer experimental_46704 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:15643609 PMID:16199547 PMID:19367192 PMID:21273304 More... NCBI chr16:89,740,638...89,740,807 JBrowse link
G LOC132090450 Neanderthal introgressed variant-containing enhancer experimental_46718 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:1792455 PMID:1927896 PMID:9371798 PMID:11344308 PMID:12444097 More... NCBI chr16:89,746,701...89,746,870 JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A
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 chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SPATA2L spermatogenesis associated 2 like IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,696,357...89,701,705
Ensembl chr16:89,696,357...89,701,705 		JBrowse link
G SPATA33 spermatogenesis associated 33 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,657,776...89,670,458
Ensembl chr16:89,657,740...89,671,272 		JBrowse link
G VPS9D1 VPS9 domain containing 1 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr16:89,707,134...89,720,898
Ensembl chr16:89,707,134...89,720,898 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr 2:57,907,592...58,159,920
Ensembl chr 2:57,907,629...58,159,920 		JBrowse link
G ZNF276 zinc finger protein 276 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A
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 chr16:89,720,368...89,740,925
Ensembl chr16:89,720,400...89,740,925 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B IAGP
EXP 		ClinVar Annotator: match by term: Fanconi anemia complementation group B
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:8368240 PMID:15502827 PMID:16199547 PMID:16679491 PMID:17924555 More... NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar Annotator: match by term: Fanconi anemia complementation group C | ClinVar Annotator: match by term: Fanconi anemia, group C 		ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:8103176 PMID:8128956 More... NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793 		JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086 		JBrowse link
G FANCC FA complementation group C IAGP
ISS 		ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar Annotator: match by term: Fanconi anemia complementation group C | ClinVar Annotator: match by term: Fanconi anemia, group C
OMIM:227645 		ClinVar
MouseDO
OMIM		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G LOC130002128 ATAC-STARR-seq lymphoblastoid silent region 20064 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:23613520 PMID:25168418 NCBI chr 9:95,317,061...95,317,380 JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated IAGP
ISS
EXP 		ClinVar Annotator: match by term: Fanconi anemia complementation group D1
OMIM:605724
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
MouseDO
CTD		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G LOC106721785 BRCA2 promoter/silencer region IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group D1 ClinVar PMID:9536098 PMID:12750298 PMID:17576681 PMID:24395671 PMID:25741868 More... NCBI chr13:32,314,559...32,315,789 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 DNA helicase 1 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:16116423 PMID:17033622 PMID:21964575 PMID:25186627 PMID:25741868 More... NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G FANCD2 FA complementation group D2 IAGP
ISS 		ClinVar Annotator: match by term: Fanconi anemia complementation group D2
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D
OMIM:227646 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G LOC107303338 3p25 FANCD2 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group D2
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D 		ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:17308347 PMID:17436244 More... NCBI chr 3:10,030,947...10,078,653 JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCE FA complementation group E IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group E OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G LOC129996245 ATAC-STARR-seq lymphoblastoid silent region 17092 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group E ClinVar PMID:9536098 PMID:11001585 PMID:16199547 PMID:17576681 PMID:17924555 More... NCBI chr 6:35,451,989...35,452,888 JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group F OMIM
ClinVar		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G LOC130005443 ATAC-STARR-seq lymphoblastoid active region 4533 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group F ClinVar PMID:16774934 PMID:18271933 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr11:22,624,713...22,624,872 JBrowse link
G LOC130005444 ATAC-STARR-seq lymphoblastoid active region 4534 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group F ClinVar PMID:25741868 PMID:28492532 NCBI chr11:22,624,883...22,624,932 JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group G OMIM
ClinVar		 PMID:9536098 PMID:9806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP
EXP 		DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Fanconi anemia complementation group I
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... RGD:11344924 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22237560 PMID:22778927 PMID:23524600 PMID:25488682 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		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 DNA helicase 1 susceptibility IAGP
EXP 		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 chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group L
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 chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr 2:57,907,592...58,159,920
Ensembl chr 2:57,907,629...58,159,920 		JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:26467025 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		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 IAGP
EXP 		ClinVar Annotator: match by term: Fanconi anemia complementation group N
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSF5 heat shock transcription factor 5 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr17:58,420,167...58,488,408
Ensembl chr17:58,420,167...58,488,408 		JBrowse link
G LOC129390903 MPRA-validated peak2919 silencer IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition 		ClinVar PMID:2159791 PMID:9536098 PMID:12966089 PMID:14704354 PMID:15126333 More... NCBI chr17:58,703,225...58,703,425 JBrowse link
G LOC130061310 ATAC-STARR-seq lymphoblastoid active region 12491 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar Annotator: match by term: RAD51C-related condition 		ClinVar PMID:9536098 PMID:12966089 PMID:14704354 PMID:15126333 PMID:17576681 More... NCBI chr17:58,692,790...58,692,959 JBrowse link
G LOC130061311 ATAC-STARR-seq lymphoblastoid active region 12492 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:12966089 PMID:14704354 PMID:15126333 PMID:20400964 PMID:21750962 More... NCBI chr17:58,707,162...58,707,211 JBrowse link
G MTMR4 myotubularin related protein 4 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr17:58,489,537...58,519,047
Ensembl chr17:58,489,529...58,517,905 		JBrowse link
G RAD51C RAD51 paralog C susceptibility IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition 		ClinVar
OMIM		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RNF43 ring finger protein 43 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595 		JBrowse link
G SEPTIN4 septin 4 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr17:58,520,256...58,544,328
Ensembl chr17:58,520,250...58,544,368 		JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr17:58,556,678...58,692,045
Ensembl chr17:58,556,678...58,692,055 		JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130058347 ATAC-STARR-seq lymphoblastoid silent region 7137 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group P ClinVar NCBI chr16:3,611,464...3,611,813 JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group P ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 More... NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group Q ClinVar
OMIM		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G LOC130058543 ATAC-STARR-seq lymphoblastoid active region 10486 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group Q ClinVar PMID:16550608 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr16:13,919,998...13,920,357 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 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
Fanconi anemia complementation group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP 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 chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G LOC111589215 BRCA1 promoter region IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group S ClinVar PMID:31690835 NCBI chr17:43,124,495...43,127,556 JBrowse link
G LOC126862571 BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group S
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S 		ClinVar PMID:7894493 PMID:9150154 PMID:9452076 PMID:10227398 PMID:11802209 More... NCBI chr17:43,091,119...43,092,318 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 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:25741868 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G LGR6 leucine rich repeat containing G protein-coupled receptor 6 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr 1:202,193,799...202,319,761
Ensembl chr 1:202,193,799...202,319,781 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 IAGP 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 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129929411 ATAC-STARR-seq lymphoblastoid silent region 270 IAGP ClinVar Annotator: match by term: MAD2L2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:11,680,470...11,680,529 JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group V
ClinVar Annotator: match by term: MAD2L2-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:27500492 PMID:28492532 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		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 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group W
ClinVar Annotator: match by term: Fanconi anemia, complementation group W | ClinVar Annotator: match by term: RFWD3-related condition 		ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26474068 PMID:28492532 More... NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
favism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP 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:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 IAGP 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:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP 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:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP 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:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP 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:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BGN biglycan IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CLIC2 chloride intracellular channel 2 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136 		JBrowse link
G CTAG1A cancer/testis antigen 1A IAGP 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:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,816 		JBrowse link
G CTAG1B cancer/testis antigen 1B IAGP 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:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282 		JBrowse link
G CTAG2 cancer/testis antigen 2 IAGP 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:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP 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:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 IAGP 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:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G DUSP9 dual specificity phosphatase 9 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,642,441...153,651,326
Ensembl chr  X:153,642,492...153,651,326 		JBrowse link
G EMD emerin IAGP 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:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F8A1 coagulation factor VIII associated 1 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:154,886,355...154,888,061
Ensembl chr  X:154,886,355...154,888,061 		JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A IAGP 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:154,506,171...154,516,232
Ensembl chr  X:154,506,159...154,516,242 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP 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:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FLNA filamin A IAGP 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:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase EXP
IAGP
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: G6PD MALAGA
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: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: Favism, susceptibility to
ClinVar Annotator: match by term: G6PD MINNESOTA
ClinVar Annotator: match by term: G6PD A-
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:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GAB3 GRB2 associated binding protein 3 IAGP 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:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 IAGP 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:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G H2AB1 H2A.B variant histone 1 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:154,884,972...154,885,558
Ensembl chr  X:154,884,972...154,885,558 		JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,447,668...153,495,465
Ensembl chr  X:153,447,668...153,495,516 		JBrowse link
G HCFC1 host cell factor C1 IAGP 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:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP 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:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,512 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP 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:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP 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:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP 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:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G LAGE3 L antigen family member 3 IAGP 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:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LOC107181288 origin of replication in promoter of G6PD IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:25741868 PMID:28492532 PMID:29300386 PMID:34620237 NCBI chr  X:154,546,511...154,547,759 JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 JBrowse link
G LOC129929052 ATAC-STARR-seq lymphoblastoid silent region 21114 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:29300386 PMID:34620237 NCBI chr  X:154,546,728...154,547,287 JBrowse link
G LOC130068881 ATAC-STARR-seq lymphoblastoid active region 30067 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:28492532 NCBI chr  X:154,547,728...154,548,007 JBrowse link
G MAGEA1 MAGE family member A1 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,179,284...153,183,880
Ensembl chr  X:153,179,284...153,183,880 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP 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:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007 		JBrowse link
G MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP 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:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G OPN1LW opsin 1, long wave sensitive IAGP 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:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP 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:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP 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:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
G PDZD4 PDZ domain containing 4 IAGP 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:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565 		JBrowse link
G PLXNA3 plexin A3 IAGP 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:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G PLXNB3 plexin B3 IAGP 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:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,669,733...153,687,771
Ensembl chr  X:153,669,733...153,689,010 		JBrowse link
G PNMA3 PNMA family member 3 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,056,470...153,060,462
Ensembl chr  X:153,056,409...153,060,467 		JBrowse link
G PNMA5 PNMA family member 5 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:152,988,824...152,994,116
Ensembl chr  X:152,988,824...152,994,116 		JBrowse link
G PNMA6A PNMA family member 6A IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,072,454...153,075,019
Ensembl chr  X:153,072,454...153,075,019 		JBrowse link
G PNMA6E PNMA family member 6E IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,395,639...153,414,004
Ensembl chr  X:153,395,639...153,401,392 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G RENBP renin binding protein IAGP 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:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G RPL10 ribosomal protein L10 IAGP 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:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 IAGP 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:154,487,311...154,490,629
Ensembl chr  X:154,487,306...154,490,690 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP 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:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP 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:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G SSR4 signal sequence receptor subunit 4 IAGP 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:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP 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:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TEX28 testis expressed 28 IAGP 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:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853 		JBrowse link
G TKTL1 transketolase like 1 IAGP 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:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350 		JBrowse link
G TMEM187 transmembrane protein 187 IAGP 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:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194 		JBrowse link
G TREX2 three prime repair exonuclease 2 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,444,473...153,446,056
Ensembl chr  X:153,444,473...153,470,587 		JBrowse link
G UBL4A ubiquitin like 4A IAGP 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:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615 		JBrowse link
G VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841 		JBrowse link
G ZFP92 ZFP92 zinc finger protein IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,411,472...153,426,481
Ensembl chr  X:153,411,472...153,426,481 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:152,898,067...152,973,481
Ensembl chr  X:152,898,067...152,973,481 		JBrowse link
G ZNF275 zinc finger protein 275 IAGP ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:153,334,153...153,352,926
Ensembl chr  X:153,334,147...153,360,110 		JBrowse link
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase IAGP
EXP 		ClinVar Annotator: match by term: G6PD deficiency
ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency
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 Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:5448 PMID:16832 PMID:472761 PMID:736032 PMID:848857 More... NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IFNG interferon gamma IAGP DNA:SNP: :874A>T (human) RGD PMID:15718915 RGD:11049178 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: G6PD deficiency ClinVar PMID:1945893 PMID:3198117 PMID:6805883 PMID:7803800 PMID:8244337 More... NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL10 interleukin 10 no_association IAGP 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 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL6 interleukin 6 IAGP DNA:SNP:promoter:-174G>C (human) RGD PMID:15718915 RGD:11049178 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LOC107181288 origin of replication in promoter of G6PD IAGP ClinVar Annotator: match by term: G6PD deficiency ClinVar PMID:25741868 NCBI chr  X:154,546,511...154,547,759 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IEP protein:increased phosphorylation:erythrocyte (human) RGD PMID:21246053 RGD:10450516 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		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 IAGP
EXP 		ClinVar Annotator: match by term: Glutathione peroxidase deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10220143 PMID:25741868 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
Glyoxalase II Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAGH hydroxyacylglutathione hydrolase IAGP OMIM NCBI chr16:1,807,629...1,827,194
Ensembl chr16:1,795,620...1,827,157 		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 IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia 		ClinVar
OMIM
RGD		 PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 More... RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
Heinz body anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSR glutathione-disulfide reductase treatment IEP RGD PMID:20692194 RGD:11059501 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP
EXP 		ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP
EXP 		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 chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta IAGP
EXP 		DNA:deletion:CDS:p.F41del, p.F42del (human)
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia
ClinVar Annotator: match by term: HEMOGLOBIN BRISTOL
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More... RGD:1600889 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Heinz body anemia
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: HEMOGLOBIN BRISTOL 		ClinVar PMID:81926 PMID:88735 PMID:186485 PMID:711920 PMID:909565 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: Heinz body anemia ClinVar PMID:13856 PMID:620088 PMID:1155453 PMID:1281602 PMID:1581238 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: Heinz body anemia ClinVar PMID:2833478 PMID:6725558 PMID:6882779 PMID:7470621 PMID:7786798 More... NCBI chr16:174,618...177,541 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Heinz body anemia
ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: HEMOGLOBIN BRISTOL 		ClinVar PMID:14973 PMID:81926 PMID:88735 PMID:186485 PMID:711920 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Heinz body hemolytic anemia
ClinVar Annotator: match by term: Heinz body anemia 		ClinVar PMID:14973 PMID:721609 PMID:750553 PMID:893136 PMID:1112610 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 IAGP
EXP 		ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
ClinVar Annotator: match by term: HMOX1-related condition
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:9884342 PMID:16199547 PMID:21088618 PMID:22023467 PMID:25741868 More... NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
hemoglobin C disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP DNA:point mutation:CDS:69G>A, amino acid E6K
ClinVar Annotator: match by term: HEMOGLOBIN C 		ClinVar
RGD		 PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More... RGD:1600890 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN C ClinVar PMID:1680789 PMID:2030155 PMID:2239966 PMID:2412200 PMID:2888754 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
hemoglobin D disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
ClinVar Annotator: match by term: Hemoglobin D disease 		ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) ClinVar PMID:3838975 PMID:25741868 PMID:26467025 NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)
ClinVar Annotator: match by term: Hemoglobin D disease 		ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: Hemoglobin D disease ClinVar PMID:750553 PMID:1177278 PMID:1244906 PMID:2079437 PMID:2307460 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
hemoglobin E disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Hemoglobin E disease ClinVar PMID:1960615 PMID:3031297 PMID:4351905 PMID:5658717 PMID:5863839 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
hemoglobin H disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBA1 hemoglobin subunit alpha 1 IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL 		OMIM
ClinVar		 PMID:1634361 PMID:1686260 PMID:1787098 PMID:2298455 PMID:2468982 More... NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL 		OMIM
ClinVar		 PMID:13856 PMID:1281602 PMID:1581238 PMID:1634361 PMID:1686260 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL 		ClinVar PMID:13856 PMID:1281602 PMID:1581238 PMID:1634361 PMID:1686260 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: Hemoglobin H disease, nondeletional
ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL 		ClinVar PMID:8237999 PMID:8251382 PMID:9029003 PMID:10569720 PMID:12403490 More... NCBI chr16:174,618...177,541 JBrowse link
Hemoglobin M Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) ClinVar PMID:1163074 PMID:4086306 PMID:4301455 PMID:4413625 PMID:4841979 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
Hemoglobin SC Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease ClinVar PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
hemoglobinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HBA1 hemoglobin subunit alpha 1 IAGP ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN ADANA
ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE
ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 		ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP ClinVar Annotator: match by term: Hemoglobin Val de Marne
ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID
ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE
ClinVar Annotator: match by term: HEMOGLOBIN SINAI
ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO
ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK
ClinVar Annotator: match by term: HEMOGLOBIN ICARIA
ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES
ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY
ClinVar Annotator: match by term: Abnormal hemoglobin 		ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 More... NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HBB hemoglobin subunit beta severity IAGP
EXP 		ClinVar Annotator: match by term: HBB-related condition
ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN SAALE
ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT
ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN BORAS
ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA
ClinVar Annotator: match by term: HEMOGLOBIN TYNE
ClinVar Annotator: match by term: HEMOGLOBIN J (LOME)
ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH)
ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO
ClinVar Annotator: match by term: HEMOGLOBIN TENDE
ClinVar Annotator: match by term: HEMOGLOBIN HIKARI
ClinVar Annotator: match by term: HEMOGLOBIN YUSA
ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH
ClinVar Annotator: match by term: HEMOGLOBIN SHELBY
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... RGD:10449038 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HBD hemoglobin subunit delta IAGP ClinVar Annotator: match by term: Hemoglobinopathy ClinVar PMID:7510147 PMID:15315794 PMID:23491071 NCBI chr11:5,232,838...5,234,483
Ensembl chr11:5,232,678...5,243,657 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HBB-related condition
ClinVar Annotator: match by term: HEMOGLOBIN SAALE
ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN BORAS
ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA
ClinVar Annotator: match by term: HEMOGLOBIN TYNE
ClinVar Annotator: match by term: HEMOGLOBIN J (LOME)
ClinVar Annotator: match by term: HEMOGLOBIN YUSA
ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH
ClinVar Annotator: match by term: HEMOGLOBIN HIKARI 		ClinVar PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC106804612 hemoglobin subunit alpha 2 recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN MONTGOMERY
ClinVar Annotator: match by term: HEMOGLOBIN CLINICO-MADRID
ClinVar Annotator: match by term: HEMOGLOBIN SINAI
ClinVar Annotator: match by term: HEMOGLOBIN SUN PRAIRIE
ClinVar Annotator: match by term: HEMOGLOBIN AGRINIO
ClinVar Annotator: match by term: HEMOGLOBIN SEAL ROCK
ClinVar Annotator: match by term: HEMOGLOBIN ICARIA
ClinVar Annotator: match by term: HEMOGLOBIN SALLANCHES
ClinVar Annotator: match by term: Hemoglobin Val de Marne
ClinVar Annotator: match by term: Abnormal hemoglobin 		ClinVar PMID:486536 PMID:620088 PMID:1115799 PMID:1517104 PMID:2079430 More... NCBI chr16:170,362...173,729 JBrowse link
G LOC106804613 hemoglobin subunit alpha 1 recombination region IAGP ClinVar Annotator: match by term: HEMOGLOBIN AGHIA SOPHIA
ClinVar Annotator: match by term: HEMOGLOBIN ADANA
ClinVar Annotator: match by term: HEMOGLOBIN OLIVIERE
ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO
ClinVar Annotator: match by term: HEMOGLOBIN J (BROUSSAIS)
ClinVar Annotator: match by term: HEMOGLOBIN HOPKINS 2 		ClinVar PMID:646867 PMID:740406 PMID:943846 PMID:4503918 PMID:4503919 More... NCBI chr16:174,618...177,541 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN TENDE
ClinVar Annotator: match by term: HBB-related condition
ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT
ClinVar Annotator: match by term: HEMOGLOBIN SAALE
ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN BORAS
ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA
ClinVar Annotator: match by term: HEMOGLOBIN TYNE
ClinVar Annotator: match by term: HEMOGLOBIN J (LOME)
ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH)
ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO
ClinVar Annotator: match by term: HEMOGLOBIN YUSA
ClinVar Annotator: match by term: HEMOGLOBIN SHELBY
ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH
ClinVar Annotator: match by term: HEMOGLOBIN HIKARI 		ClinVar PMID:8114 PMID:14597 PMID:20942 PMID:81926 PMID:88735 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: HEMOGLOBIN TENDE
ClinVar Annotator: match by term: Hemoglobinopathy
ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT
ClinVar Annotator: match by term: HBB-related condition
ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH)
ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO
ClinVar Annotator: match by term: HEMOGLOBIN SHELBY 		ClinVar PMID:239863 PMID:239943 PMID:604313 PMID:747178 PMID:750553 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
hemolytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2M alpha-2-macroglobulin ISO RGD PMID:11952820 RGD:704364 NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase IDA RGD PMID:3136561 RGD:11100010 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G AK1 adenylate kinase 1 IAGP RGD PMID:10233365 RGD:1300279 NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:liver (rat) RGD PMID:17082564 RGD:1599038 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G ANK1 ankyrin 1 IAGP ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:23225343 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25411909 NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175 		JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO RGD PMID:9927493 RGD:11252099 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:10733367 PMID:16629641 PMID:20446436 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G FCGR2A Fc gamma receptor IIa IMP RGD PMID:15982355 RGD:11040945 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase EXP
IAGP 		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:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP
EXP 		DNA:missense mutation:cds: 473C>T (p.158L)(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:10515893 PMID:10733484 RGD:11049537 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO
IAGP
EXP 		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 chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G GSR glutathione-disulfide reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:13931269 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G HBB hemoglobin subunit beta IAGP ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK
ClinVar Annotator: match by term: HEMOGLOBIN LUFKIN
ClinVar Annotator: match by term: HEMOGLOBIN ZURICH
ClinVar Annotator: match by term: HEMOGLOBIN HYOGO
ClinVar Annotator: match by term: HEMOGLOBIN SABINE
ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO
ClinVar Annotator: match by term: HEMOGLOBIN PERTH
ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED
ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN
ClinVar Annotator: match by term: HEMOGLOBIN VOLGA
ClinVar Annotator: match by term: Hemolytic anemia 		ClinVar PMID:24022 PMID:42311 PMID:439565 PMID:893142 PMID:952960 More... NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9884342 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HP haptoglobin IAGP associated with Malaria RGD PMID:16637741 RGD:11041791 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11010742 PMID:15293138 PMID:16633111 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398 		JBrowse link
G ITPA inosine triphosphatase treatment IAGP
EXP 		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 chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G LOC106099062 HBB recombination region IAGP ClinVar Annotator: match by term: Hemolytic anemia
ClinVar Annotator: match by term: HEMOGLOBIN LUFKIN
ClinVar Annotator: match by term: HEMOGLOBIN ZURICH
ClinVar Annotator: match by term: HEMOGLOBIN HYOGO
ClinVar Annotator: match by term: HEMOGLOBIN SABINE
ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO
ClinVar Annotator: match by term: HEMOGLOBIN PERTH
ClinVar Annotator: match by term: HEMOGLOBIN VOLGA 		ClinVar PMID:24022 PMID:42311 PMID:439565 PMID:893142 PMID:952960 More... NCBI chr11:5,226,570...5,228,834 JBrowse link
G LOC107133510 origin of replication at HBB IAGP ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK
ClinVar Annotator: match by term: HEMOGLOBIN LUFKIN
ClinVar Annotator: match by term: HEMOGLOBIN SABINE
ClinVar Annotator: match by term: HEMOGLOBIN ZURICH
ClinVar Annotator: match by term: HEMOGLOBIN HYOGO
ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO
ClinVar Annotator: match by term: HEMOGLOBIN PERTH
ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED
ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN
ClinVar Annotator: match by term: HEMOGLOBIN VOLGA
ClinVar Annotator: match by term: Hemolytic anemia 		ClinVar PMID:24022 PMID:42311 PMID:439565 PMID:893142 PMID:952960 More... NCBI chr11:5,222,166...5,229,620 JBrowse link
G LOC110006319 beta-globin gene 3' regulatory region IAGP ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK
ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED
ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN 		ClinVar PMID:3014870 PMID:5492847 PMID:5780360 PMID:6310991 PMID:8579053 More... NCBI chr11:5,223,780...5,226,590 JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP RGD PMID:16740138 RGD:1599123 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:25741868 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PKLR pyruvate kinase L/R IAGP ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:9827908 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G RHAG Rh associated glycoprotein IAGP Rh(null) syndrome, OMIM:180297 RGD PMID:10467273 RGD:1599622 NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) EXP
IAGP 		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 chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:11304553 RGD:11035277 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Hemolytic anemia ClinVar PMID:8844207 PMID:10192450 PMID:25741868 PMID:27667160 PMID:28492532 More... NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemolytic anemia 		CTD
ClinVar		 PMID:9005995 PMID:25741868 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G TPI1 triosephosphate isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2876430 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		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 IAGP 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:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
hemolytic-uremic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6734075 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma (rat) RGD PMID:10201001 RGD:11528527 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL3 C-C motif chemokine ligand 3 ISO RGD PMID:17220320 RGD:7241820 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IDA RGD PMID:16197457 RGD:6893534 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CD46 CD46 molecule susceptibility IAGP 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 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CFH complement factor H IAGP
ISS 		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 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:25854283 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:12053072 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G F2 coagulation factor II, thrombin IEP associated with diarrhea;protein:increased expression:plasma (human) RGD PMID:9423793 RGD:40818428 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:15632024 RGD:7242276 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G HP haptoglobin IEP RGD PMID:6218601 RGD:1626361 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 severity IEP associated with Escherichia Coli Infections; RGD PMID:30467800 RGD:39458200 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP
IDA 		protein:increased concentration:serum (human) RGD PMID:9802632 PMID:12373296 RGD:6909134, RGD:6909171 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G MBL2 mannose binding lectin 2 treatment IMP RGD PMID:27378476 RGD:11530050 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12588957 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G PLA2G7 phospholipase A2 group VII severity IAGP associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) RGD PMID:10873870 RGD:7257516 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLAT plasminogen activator, tissue type IEP associated with Escherichia coli Infections;protein:increased expression:plasma (human) RGD PMID:11777999 RGD:11541069 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:22942429 RGD:11038690 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15384034 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		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 IEP
ISS
IAGP 		associated with Myelodysplastic-Myeloproliferative Diseases
OMIM:130600 | OMIM:611804
ClinVar Annotator: match by term: Hereditary elliptocytosis 		MouseDO
ClinVar
RGD		 PMID:17994571 RGD:11252097 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046 		JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Elliptocytosis ClinVar PMID:25741868 NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IEP
IAGP
EXP 		ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:13208947 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO
IAGP 		DNA:insertion:intron:
ClinVar Annotator: match by term: Elliptocytosis 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11154235 RGD:11059523 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic EXP
IAGP 		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 chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		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 IAGP ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
EXP 		ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1191563 PMID:1353056 PMID:1541680 PMID:1638030 PMID:1642244 More... NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
hereditary spherocytosis term browser