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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:aplastic anemia
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Accession:DOID:12449 term browser browse the term
Definition:An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)
Synonyms:exact_synonym: Aplastic Anemias;   hypoplastic anemia;   hypoplastic anemias
 narrow_synonym: APLASTIC ANEMIA, SUSCEPTIBILITY TO;   severe aplastic anemia
 primary_id: MESH:D000741
 alt_id: OMIM:609135
 xref: GARD:5836;   ICD10CM:D61.9;   ICD9CM:284.9;   NCI:C2870;   ORDO:182040
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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...137,188,585
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 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 chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand IEP protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr19:49,474,172...49,487,037
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...132,991,697
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...32,654,846
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 DNA:repeats:intron:
ClinVar Annotator: match by term: Aplastic anemia
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
ClinVar
OMIM
RGD
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 4:54,657,918...54,740,715
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:24033266 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:15319288 PMID:24033266 More... NCBI chr 3:169,764,992...169,765,858 JBrowse link
G NBN nibrin IAGP ClinVar Annotator: match by term: Aplastic anemia OMIM
ClinVar
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 More... NCBI chr 8:89,933,331...89,984,698
Ensembl chr 8:89,933,331...90,003,228
JBrowse link
G PRF1 perforin 1 IAGP ClinVar Annotator: match by term: Aplastic anemia ClinVar
OMIM
PMID:11179007 PMID:11756153 PMID:14757862 PMID:15755897 PMID:16278825 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 IAGP ClinVar Annotator: match by term: Aplastic anemia, susceptibility to OMIM
ClinVar
PMID:12496757 PMID:14749921 PMID:15769891 PMID:15860664 PMID:15942154 More... NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,587
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:17460043 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 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,239,643...24,242,674
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
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, autosomal dominant ClinVar
OMIM
PMID:3653362 PMID:26491070 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 SLC25A38 solute carrier family 25 member 38 IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory
ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
OMIM
ClinVar
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 3:39,383,353...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, pyridoxine-refractory 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
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP72 signal recognition particle 72 IAGP ClinVar Annotator: match by term: Bone marrow failure syndrome 1
ClinVar Annotator: match by term: Bone marrow failure, familial
ClinVar
OMIM
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
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:16783379 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,442...124,749,273
Ensembl chr 3:124,730,433...124,749,273
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:24942156 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: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar
OMIM
PMID:24942156 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 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,039,059...8,049,134
Ensembl chr17:8,039,034...8,049,134
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,310,241...8,322,516
Ensembl chr17:8,310,241...8,322,514
JBrowse link
G AURKB aurora kinase B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,204,731...8,210,767
Ensembl chr17:8,204,733...8,210,600
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,884,764...7,912,755
Ensembl chr17:7,884,796...7,912,760
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,932,054...7,949,920
Ensembl chr17:7,932,101...7,949,920
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,224,815...8,248,079
Ensembl chr17:8,224,815...8,248,056
JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,858,003...7,862,282
Ensembl chr17:7,857,746...7,862,282
JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,354...7,833,744
JBrowse link
G EFNB3 ephrin B3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,705,202...7,711,372
Ensembl chr17:7,705,202...7,711,372
JBrowse link
G FLVCR1 FLVCR 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 GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:12200364 PMID:14691578 PMID:16199547 PMID:16783379 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
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 GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,120,590...8,126,032
Ensembl chr17:8,120,592...8,124,106
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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,921,859...7,930,346
Ensembl chr17:7,921,859...7,929,856
JBrowse link
G KDM6B lysine demethylase 6B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,834,210...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KLF1 Kruppel like 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,358,822...8,376,704
Ensembl chr17:8,356,902...8,376,704
JBrowse link
G LINC00324 long intergenic non-protein coding RNA 324 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,220,630...8,224,043
Ensembl chr17:8,220,642...8,224,043
JBrowse link
G LOC100128288 uncharacterized LOC100128288 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,358,413...8,360,541 JBrowse link
G LOC106794092 nonconserved acetylation island sequence 72 enhancer IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,199,936...8,200,425 JBrowse link
G LOC112533665 Sharpr-MPRA regulatory region 4002 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,857,471...7,857,765 JBrowse link
G LOC116276454 CRISPRi-validated cis-regulatory element chr17.641 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,304,515...8,304,903 JBrowse link
G LOC119407405 CRISPRi-FlowFISH-validated PLP2 regulatory element IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:48,793,298...48,793,798 JBrowse link
G MIR4314 microRNA 4314 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,186,945...8,187,004
Ensembl chr17:8,186,945...8,187,004
JBrowse link
G MIR6883 microRNA 6883 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,144,994...8,145,071
Ensembl chr17:8,144,994...8,145,071
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238
JBrowse link
G ODF4 outer dense fiber of sperm tails 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,339,840...8,346,048
Ensembl chr17:8,339,840...8,346,048
JBrowse link
G PER1 period circadian regulator 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,140,470...8,156,360
Ensembl chr17:8,140,472...8,156,506
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,247,596...8,270,491
Ensembl chr17:8,247,618...8,270,491
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 chr10:77,969,251...78,029,515
JBrowse link
G RANGRF RAN guanine nucleotide release factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,913,324...7,916,318
Ensembl chr17:7,913,339...7,916,289
JBrowse link
G RPL11 ribosomal protein L11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL26 ribosomal protein L26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 More... 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: Diamond-Blackfan anemia 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: Diamond-Blackfan anemia 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 RPS17 ribosomal protein S17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17647292 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 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 PMID:17186470 PMID:19689926 PMID:22855961 PMID:25741868 PMID:27029625 More... 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: Diamond-Blackfan anemia ClinVar 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...39,412,542
JBrowse link
G SCARNA21 small Cajal body-specific RNA 21 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,906,123...7,906,260
Ensembl chr17:7,906,122...7,906,260
JBrowse link
G SLC25A35 solute carrier family 25 member 35 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,287,763...8,295,689
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 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:22267198 PMID:22387016 PMID:28492532 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 SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016
JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM88 transmembrane protein 88 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,854,886...7,856,099
Ensembl chr17:7,855,066...7,856,099
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,186,358...8,186,429 JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:28492532 NCBI chr  X:48,683,753...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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
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:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522
JBrowse link
G MIR6797 microRNA 6797 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar 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:19773262 PMID:20960466 PMID:23718193 PMID:25741868 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:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:12586610 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:23812780 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...56,047,478 JBrowse link
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar
OMIM
PMID:9536098 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
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 ClinVar
OMIM
PMID:22431104 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 PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr 3:23,889,949...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
OMIM
PMID:23812780 PMID:25741868 PMID:28492532 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
OMIM
PMID:24829207 PMID:25741868 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 TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ClinVar
OMIM
PMID:11424144 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 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL27 ribosomal protein L27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 ClinVar
OMIM
PMID:25424902 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 RPS27 ribosomal protein S27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 ClinVar
OMIM
PMID:25424902 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
OMIM
PMID:28280134 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
OMIM
PMID:28280134 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 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr10:77,969,251...78,029,515
JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar
OMIM
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 ClinVar
OMIM
PMID:17647292 PMID:23718193 PMID:23812780 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 IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr 3:197,889,077...197,960,111
Ensembl chr 3:197,889,077...197,960,142
JBrowse link
G RPL35A ribosomal protein L35a IAGP DNA:deletions, snps:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
DNA:deletions, duplication:multiple (human)
ClinVar
OMIM
RGD
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 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
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:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 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 DNA:snps, duplication, deletions:exons:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
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
OMIM
RGD
PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 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 RPL11 ribosomal protein L11 IAGP
ISO
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
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
OMIM
RGD
PMID:16199547 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 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 RPS7 ribosomal protein S7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 More... NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar
OMIM
PMID:20116044 PMID:23718193 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: Diamond-Blackfan anemia 9 ClinVar PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 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 NCBI chr 7:50,303,453...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
Fanconi anemia 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
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:1574115 PMID:1641028 PMID:08103176 PMID:8128956 PMID:8499901 More... NCBI chr 9:94,726,669...95,148,264
Ensembl chr 9:94,726,699...95,087,159
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility IAGP DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
RGD
PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 More... RGD:734658 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP
EXP
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chr17:61,679,139...61,864,120
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:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190
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's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple
ClinVar
CTD
RGD
PMID:1792455 PMID:2472832 PMID:8896563 PMID:09371798 PMID:9399890 More... RGD:11344899, RGD:11344919, RGD:11344914 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
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's 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...95,317,730
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 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 PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 More... NCBI chr 3:10,081,320...10,108,603
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:25741868 NCBI chr 6:35,452,338...35,467,106
Ensembl chr 6:35,452,338...35,467,102
JBrowse link
G FANCF FA complementation group F IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:16774934 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's anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,079,942
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 pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar
RGD
PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... RGD:11344925 NCBI chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP
EXP
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:19405097 More... NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G FANCM FA complementation group M IAGP
EXP
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 FLT3LG fms related receptor tyrosine kinase 3 ligand IEP protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr19:49,474,172...49,487,037
Ensembl chr19:49,474,207...49,486,231
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 LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr 9:95,463,609...95,470,019 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 PMID:9536098 PMID:11239453 PMID:16199547 PMID:17308347 PMID:17436244 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:17703323 PMID:19557015 PMID:22382802 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 PMID:9721219 PMID:10090479 PMID:10521298 PMID:15643609 PMID:16084127 More... NCBI chr16:89,816,581...89,816,875 JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MX1 MX dynamin like GTPase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr21:41,420,329...41,459,214
Ensembl chr21:41,420,020...41,470,071
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668 PMID:18302019 PMID:25741868 PMID:26467025 PMID:26564480 More... NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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 PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 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 IAGP
EXP
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr17:58,692,140...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP
EXP
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chr16:3,579,653...3,611,639
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 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 transcription factor 25 IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr16:89,873,592...89,911,384
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 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:28492532 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
G VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr 2:57,907,592...58,163,993
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 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
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:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 More... NCBI chr 9:94,726,669...95,148,264
Ensembl chr 9:94,726,699...95,087,159
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:17308087 More... NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group A
ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
OMIM
PMID:1792455 PMID:2339692 PMID:2472832 PMID:8896563 PMID:08896564 More... NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
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:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
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:8799375 PMID:08844212 PMID:8882868 More... NCBI chr 9:95,099,054...95,317,730
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:28492532 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 NCBI chr 3:10,081,320...10,108,603
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:28492532 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,079,942
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 chr15:89,243,973...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 PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
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: Fanconi anemia, group A
ClinVar PMID:10090479 PMID:10521298 PMID:15643609 PMID:16084127 PMID:19367192 More... NCBI chr16:89,816,581...89,816,875 JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chr16:3,579,653...3,611,639
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chr 2:57,907,592...58,163,993
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: Fanconi anemia, 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
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 ClinVar Annotator: match by term: Fanconi anemia, complementation group B
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2
ClinVar
OMIM
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:14,690,863...14,873,255
Ensembl chr  X:14,835,961...14,873,069
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: Fanconi anemia, group C
ClinVar Annotator: match by term: FACC
ClinVar PMID:1574115 PMID:1641028 PMID:8103176 PMID:8128956 PMID:8499901 More... NCBI chr 9:94,726,669...95,148,264
Ensembl chr 9:94,726,699...95,087,159
JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by term: Fanconi anemia, group C
ClinVar Annotator: match by term: FACC
ClinVar
OMIM
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
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 ClinVar Annotator: match by term: Fanconi anemia, complementation group D1 ClinVar
OMIM
PMID:1234 PMID:1232165 PMID:1628499 PMID:1843150 PMID:1990134 More... NCBI chr13:32,315,508...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:25741868 PMID:26467025 PMID:28492532 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 FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group D2 ClinVar
OMIM
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 PMID:17436244 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:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 More... NCBI chr 3:10,081,320...10,108,603
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 PMID:11239453 PMID:16199547 PMID:17308347 PMID:17436244 PMID:21356188 More... NCBI chr 3:10,030,947...10,078,653 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 ClinVar
OMIM
PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr 6:35,452,338...35,467,106
Ensembl chr 6:35,452,338...35,467,102
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 ClinVar
OMIM
PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 More... NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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:9806458 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 More... NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,079,942
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:28492532 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 DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Fanconi anemia, complementation group I
ClinVar
OMIM
RGD
PMID:17412408 PMID:17452773 PMID:17460694 PMID:17924555 PMID:18414213 More... RGD:11344924 NCBI chr15:89,243,973...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:22778927 PMID:23524600 PMID:25741868 PMID:26467025 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 helicase 1 IAGP DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by term: Fanconi anemia, complementation group J
ClinVar
OMIM
RGD
PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 More... RGD:11251781 NCBI chr17:61,679,139...61,864,120
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
OMIM
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr 2:58,159,243...58,241,681
Ensembl chr 2:58,159,243...58,241,372
JBrowse link
G VRK2 VRK serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group L ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr 2:57,907,592...58,163,993
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:28492532 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 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group N ClinVar
OMIM
PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 More... NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
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 MTMR4 myotubularin related protein 4 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr17:58,489,537...58,518,109
Ensembl chr17:58,489,529...58,517,905
JBrowse link
G RAD51C RAD51 paralog C IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar
OMIM
PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 More... NCBI chr17:58,692,140...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...58,418,894
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 chr17:58,520,255...58,544,372
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 SLX4 SLX4 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group P ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More... NCBI chr16:3,579,653...3,611,639
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 Annotator: match by term: Fanconi anemia, complementation group Q
ClinVar
OMIM
PMID:16550608 PMID:23623386 PMID:24728327 PMID:25741868 PMID:28292785 More... NCBI chr16:13,920,137...13,952,348
Ensembl chr16:13,920,138...13,952,348
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 NCBI chr15:40,694,774...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
OMIM
ClinVar
PMID:2618727 PMID:7493024 PMID:7663517 PMID:7795652 PMID:7837387 More... NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group t
ClinVar Annotator: match by term: Fanconi anemia, complementation group T
ClinVar
OMIM
PMID:26046368 PMID:26119737 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,657...202,341,980
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:20189471 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,141
JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP ClinVar Annotator: match by term: Fanconi anemia, complementation group V ClinVar
OMIM
PMID:27500492 NCBI chr 1:11,674,480...11,691,559
Ensembl chr 1:11,674,480...11,691,650
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
OMIM
PMID:25741868 PMID:26474068 PMID:28691929 PMID:33044890 NCBI chr16:74,621,396...74,666,892
Ensembl chr16:74,621,399...74,666,877
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,388,564...45,549,407
Ensembl chr 3:45,388,561...45,554,726
JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A2 solute carrier family 11 member 2 IAGP ClinVar Annotator: match by term: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like IAGP ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G PUS1 pseudouridine synthase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:28492532 NCBI chr12:131,929,268...131,945,896
Ensembl chr12:131,929,200...131,945,896
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP
EXP
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr12:32,725,247...32,756,458
Ensembl chr12:32,727,490...32,755,897
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM
ClinVar
PMID:7726239 PMID:14981724 PMID:15108122 PMID:15971356 PMID:17056637 More... NCBI chr12:131,929,268...131,945,896
Ensembl chr12:131,929,200...131,945,896
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like IAGP ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chr12:32,679,296...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr12:32,725,247...32,756,458
Ensembl chr12:32,727,490...32,755,897
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IEP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16892088 PMID:18637800 PMID:18398482 RGD:11038732 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 9:113,386,312...113,401,301
Ensembl chr 9:113,386,312...113,401,290
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 susceptibility IAGP
EXP
DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16716198 PMID:16892088 PMID:7949148 RGD:1599037 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977
JBrowse link
G CALR calreticulin IAGP DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G GDF15 growth differentiation factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr19:18,382,170...18,389,176
Ensembl chr19:18,374,731...18,389,176
JBrowse link
G GLRX5 glutaredoxin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Sideroblastic anemia, acquired idiopathic ClinVar PMID:9389715 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G SLC25A38 solute carrier family 25 member 38 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 3:39,383,353...39,397,351
Ensembl chr 3:39,383,370...39,397,351
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr 3:196,018,694...196,082,123
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 onset IAGP
EXP
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1
ClinVar Annotator: match by term: Hereditary sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
ClinVar
CTD
OMIM
RGD
PMID:1570328 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 More... RGD:11035241, RGD:11035244, RGD:11035243 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977
JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:55,000,363...55,009,057
Ensembl chr  X:55,000,363...55,009,057
JBrowse link
G LOC108663984 ALAS2 intron 1 and 3 erythroid regulatory elements IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:18823803 PMID:23315997 NCBI chr  X:55,023,757...55,030,982 JBrowse link
G PAGE2B PAGE family member 2B IAGP ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:28492532 NCBI chr  X:55,027,927...55,078,909
Ensembl chr  X:55,075,030...55,078,909
JBrowse link
G SLC25A38 solute carrier family 25 member 38 IAGP ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 3:39,383,353...39,397,351
Ensembl chr 3:39,383,370...39,397,351
JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone IAGP ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 5 OMIM
ClinVar
PMID:32634119 NCBI chr22:28,741,992...28,757,510
Ensembl chr22:28,742,039...28,757,515
JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRNT1 tRNA nucleotidyl transferase 1 IAGP ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar Annotator: match by term: Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar
OMIM
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 3:3,126,937...3,153,435
Ensembl chr 3:3,126,933...3,150,879
JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 susceptibility IAGP
EXP
DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
ClinVar Annotator: match by term: Anemia sideroblastic and spinocerebellar ataxia
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar
CTD
OMIM
RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IAGP ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic
ClinVar NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977
JBrowse link
G PAGE2B PAGE family member 2B IAGP ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:55,027,927...55,078,909
Ensembl chr  X:55,075,030...55,078,909
JBrowse link
G SLC25A38 solute carrier family 25 member 38 IAGP ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr 3:39,383,353...39,397,351
Ensembl chr 3:39,383,370...39,397,351
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20286
    disease of anatomical entity 18890
      hematopoietic system disease 2025
        anemia 499
          aplastic anemia 209
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndrome 1 1
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 158
            myelophthisic anemia 0
            pure red-cell aplasia + 103
            sideroblastic anemia + 24
Path 2
Term Annotations click to browse term
  disease 20286
    disease of anatomical entity 18890
      Hemic and Lymphatic Diseases 2471
        hematopoietic system disease 2025
          bone marrow disease 665
            Bone Marrow Failure Disorders 222
              aplastic anemia 209
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 158
                myelophthisic anemia 0
                pure red-cell aplasia + 103
                sideroblastic anemia + 24
paths to the root