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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 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669
G CD40LG CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,433,190...80,445,481
JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 4:124,229,414...124,359,339
Ensembl chr 4:124,229,560...124,360,042
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,529
JBrowse link
G EPHX1 epoxide hydrolase 1 disease_progression
susceptibility
ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:missense mutation:exon:p.H139R (human)
RGD PMID:21228718 PMID:26999617 RGD:11252118 RGD:11252120 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,735,170...13,773,071
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:
RGD PMID:7577642 PMID:11876982 RGD:11049159 RGD:11049449 NCBI chr14:100,927,305...100,954,781 JBrowse link
G GATA2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr13:71,981,139...71,997,626
Ensembl chr13:71,984,063...71,997,622
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,701,927...272,715,539
JBrowse link
G IFNG interferon gamma susceptibility
treatment
ISO DNA:repeats:intron:
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
OMIM
RGD
PMID:15327519 PMID:18426658 PMID:20953611 RGD:10755688 RGD:10755690 RGD:10755710 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G NBN nibrin ISO OMIM NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,659...46,903,999
JBrowse link
G PRF1 perforin 1 ISO OMIM NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,592...124,367,647
JBrowse link
G SBDS SBDS ribosome maturation factor ISO OMIM NCBI chr 3:16,161,524...16,168,619
Ensembl chr 3:16,161,557...16,187,540
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia
CTD
ClinVar
RGD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 More... RGD:11038668 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TGFB1 transforming growth factor beta 1 severity
susceptibility
ISO protein:decreased expression: :
DNA:polymorphism: :509C>T(human)
RGD PMID:24028718 PMID:24362456 RGD:11073601 RGD:11073606 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G THPO thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)
RGD PMID:22686250 PMID:24085763 RGD:11073679 RGD:11073680 NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,216...122,267,861
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,072,899
JBrowse link
G TNF tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO OMIM NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,246...140,531,845
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO OMIM NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,664...24,044,782
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 ISO OMIM NCBI chr 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554
JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP72 signal recognition particle 72 ISO OMIM NCBI chr 8:55,729,202...55,762,298
Ensembl chr 8:55,729,116...55,762,020
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,495
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:16783379 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,604
JBrowse link
Diamond Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24942156 More... NCBI chr 5:21,431,656...21,433,691 JBrowse link
G RPS28 ribosomal protein S28 ISO OMIM NCBI chr 2:70,953,706...70,954,862
Ensembl chr 2:70,953,650...70,954,765
JBrowse link
G TSR2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,604...47,192,460
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,259,867...53,281,127
Ensembl chr12:53,259,940...53,281,520
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,410,833...53,426,165
Ensembl chr12:53,410,176...53,423,225
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,112,230...53,165,653
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667
JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,427,807...53,454,149 JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 More... NCBI chr 4:124,229,414...124,359,339
Ensembl chr 4:124,229,560...124,360,042
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:52,982,217...53,086,744 JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:52,970,398...52,976,260
Ensembl chr12:52,970,484...52,976,261
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:12200364 PMID:14691578 PMID:16199547 PMID:16783379 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,334,350...53,339,336
Ensembl chr12:53,334,901...53,337,376
JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,171,315...53,178,924
Ensembl chr12:53,171,318...53,180,823
JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,091,334...53,108,214
JBrowse link
G KLF1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,111,249...53,112,487 JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,517,175...53,525,458 JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,868...53,376,611
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,458,401...53,477,254 JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,484,584...53,486,716
Ensembl chr12:53,485,280...53,525,756
JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,163,996...53,166,418
Ensembl chr12:53,163,863...53,166,567
JBrowse link
G RPL11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 6:81,523,510...81,526,925
Ensembl chr 6:81,522,726...81,530,459
JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,548,313...53,553,453
Ensembl chr12:53,548,321...53,553,451
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 More... NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,592...124,367,647
JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr 7:30,435,146...30,442,791
Ensembl chr 7:30,320,307...30,443,535
JBrowse link
G RPS17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 7:52,386,342...52,389,003
Ensembl chr 7:52,386,036...52,390,600
JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... RGD:1599571 RGD:1599572 NCBI chr 6:50,003,198...50,010,135
Ensembl chr 6:50,000,219...50,009,592
JBrowse link
G RPS20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 4:75,762,209...75,763,449
Ensembl chr 4:75,762,145...75,769,981
JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470 PMID:19689926 PMID:22855961 PMID:25741868 PMID:27029625 More... NCBI chr14:80,473,867...80,480,818 JBrowse link
G RPS7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 3:131,258,709...131,263,285
Ensembl chr 3:131,258,713...131,342,877
JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,486,687...53,495,972
Ensembl chr12:53,486,247...53,495,986
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,814,003
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,043...53,397,051
JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,109,467...53,110,648
Ensembl chr12:53,109,621...53,110,646
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,179,257...53,180,981 JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:53,378,407...53,382,243 JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,974,741
JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 4:124,229,414...124,359,339
Ensembl chr 4:124,229,560...124,360,042
JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,592...124,367,647
JBrowse link
G RPS19 ribosomal protein S19 ISO OMIM NCBI chr 6:50,003,198...50,010,135
Ensembl chr 6:50,000,219...50,009,592
JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKZF4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr 5:21,399,858...21,427,648
Ensembl chr 5:21,400,347...21,427,726
JBrowse link
G RPS26 ribosomal protein S26 ISO OMIM NCBI chr 5:21,431,656...21,433,691 JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL26 ribosomal protein L26 ISO OMIM NCBI chr12:53,548,313...53,553,453
Ensembl chr12:53,548,321...53,553,451
JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKIRAS1 NFKB inhibitor interacting Ras like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr13:10,686,480...10,716,162
Ensembl chr13:10,686,485...10,716,100
JBrowse link
G RPL15 ribosomal protein L15 ISO OMIM NCBI chr13:10,716,373...10,719,959
Ensembl chr13:10,716,002...10,719,952
JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS29 ribosomal protein S29 ISO OMIM NCBI chr 1:179,454,923...179,456,847
Ensembl chr 1:179,454,561...179,461,631
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 ISO OMIM NCBI chr  X:47,186,610...47,192,465
Ensembl chr  X:47,186,604...47,192,460
JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL27 ribosomal protein L27 ISO OMIM NCBI chr12:19,892,210...19,894,202
Ensembl chr12:19,892,210...19,894,509
JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS27 ribosomal protein S27 ISO OMIM NCBI chr 4:95,697,869...95,699,481 JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL18 ribosomal protein L18 ISO OMIM NCBI chr 6:53,974,353...53,978,681
Ensembl chr 6:53,973,512...53,978,611
JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL35 ribosomal protein L35 ISO OMIM NCBI chr 1:265,637,266...265,642,278
Ensembl chr 1:265,636,637...265,645,348
JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS15A ribosomal protein S15a ISO OMIM NCBI chr 3:26,776,661...26,783,491
Ensembl chr 3:26,776,780...26,784,151
JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
G RPS24 ribosomal protein S24 ISO OMIM NCBI chr14:80,473,867...80,480,818 JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS17 ribosomal protein S17 ISO OMIM NCBI chr 7:52,386,342...52,389,003
Ensembl chr 7:52,386,036...52,390,600
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr13:134,540,048...134,588,122
Ensembl chr13:134,536,091...134,588,049
JBrowse link
G RPL35A ribosomal protein L35a ISO OMIM NCBI chr13:134,588,288...134,591,873
Ensembl chr13:134,588,333...134,647,965
JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 More... NCBI chr 4:124,229,414...124,359,339
Ensembl chr 4:124,229,560...124,360,042
JBrowse link
G RPL5 ribosomal protein L5 ISO OMIM NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,592...124,367,647
JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL11 ribosomal protein L11 ISO OMIM NCBI chr 6:81,523,510...81,526,925
Ensembl chr 6:81,522,726...81,530,459
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 ISO OMIM NCBI chr 3:131,258,709...131,263,285
Ensembl chr 3:131,258,713...131,342,877
JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS10 ribosomal protein S10 ISO OMIM NCBI chr 7:30,435,146...30,442,791
Ensembl chr 7:30,320,307...30,443,535
JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO OMIM NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
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) ISO 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 chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
RGD
ClinVar
PMID:11030417 PMID:11185744 PMID:12065746 PMID:12491487 PMID:12955716 More... RGD:734658 NCBI chr11:8,805,950...8,858,128 JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,433...66,324,174
JBrowse link
G FANCA FA complementation group A disease_progression ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
DNA:missense mutations, splice-site mutations:exon, intron:multiple
DNA:deletions, transitions:exon, intron:multiple
CTD
ClinVar
RGD
PMID:1792455 PMID:2472832 PMID:8896563 PMID:09371798 PMID:09399890 More... RGD:11344899 RGD:11344914 RGD:11344919 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FANCB FA complementation group B ISO 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:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
JBrowse link
G FANCC FA complementation group C onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907 RGD:11344914 NCBI chr10:26,796,546...27,055,271 JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
RGD
ClinVar
CTD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 More... RGD:11344904 RGD:1601137 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 More... NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
JBrowse link
G FANCF FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:16774934 More... NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,726...36,885,856
JBrowse link
G FANCG FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:9806458 PMID:9806548 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G FANCI FA complementation group I ISO 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
RGD
ClinVar
PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... RGD:11344925 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G FANCL FA complementation group L ISO CTD Direct Evidence: marker/mechanism
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:19405097 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
JBrowse link
G FANCM FA complementation group M ISO CTD Direct Evidence: marker/mechanism
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 chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
JBrowse link
G IFNG interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MX1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr13:204,843,049...204,868,927
Ensembl chr13:204,843,754...204,868,922
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668 PMID:18302019 PMID:25741868 PMID:26467025 PMID:26564480 More... NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO 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 chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G PRF1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G RAD51C RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,018
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr 6:211,480...246,109
Ensembl chr 6:211,487...243,636
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:8438880 PMID:22628295 PMID:24021704 RGD:10450524 RGD:11049161 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO 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 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 6:298,034...316,451
Ensembl chr 6:298,036...313,366
JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 More... NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G FANCA FA complementation group A ISO OMIM NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FANCB FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:8799375 PMID:08844212 PMID:8882868 More... NCBI chr10:26,796,546...27,055,271 JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:28492532 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G FANCL FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980
JBrowse link
G ZNF276 zinc finger protein 276 ISO 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 chr 6:298,034...316,451
Ensembl chr 6:298,036...313,366
JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCB FA complementation group B ISO OMIM NCBI chr  X:11,386,360...11,408,958
Ensembl chr  X:10,960,996...11,409,057
JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: 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 chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G FANCC FA complementation group C ISO OMIM NCBI chr10:26,796,546...27,055,271 JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO OMIM NCBI chr11:8,805,950...8,858,128 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 ISO OMIM NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group D2 ClinVar PMID:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 More... NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,308,667...66,312,846
JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCF FA complementation group F ISO OMIM NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,726...36,885,856
JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCG FA complementation group G ISO OMIM NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO OMIM NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,744,742...54,890,997
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
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 ISO OMIM NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L ISO OMIM NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,208...83,436,944
JBrowse link
G VRK2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr 3:83,435,250...83,537,022
Ensembl chr 3:83,433,313...83,536,980
JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
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 ISO OMIM NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSF5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr12:34,696,231...34,744,536
Ensembl chr12:34,699,275...34,744,497
JBrowse link
G MTMR4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr12:34,745,232...34,771,315
Ensembl chr12:34,745,236...34,771,233
JBrowse link
G RAD51C RAD51 paralog C ISO OMIM NCBI chr12:34,975,949...35,018,112
Ensembl chr12:34,975,957...35,019,018
JBrowse link
G RNF43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr12:34,631,574...34,695,021 JBrowse link
G SEPTIN4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr12:34,772,776...34,785,176 JBrowse link
G TEX14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr12:34,815,472...34,975,901
Ensembl chr12:34,815,475...34,912,766
JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLX4 SLX4 structure-specific endonuclease subunit ISO OMIM NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO OMIM NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,266,236...29,306,116
JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD51 RAD51 recombinase ISO OMIM NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,647...130,640,136
JBrowse link
Fanconi Anemia Complementation Group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO OMIM NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
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 ISO OMIM NCBI chr10:24,454,492...24,459,085
Ensembl chr10:24,454,495...24,459,057
JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XRCC2 X-ray repair cross complementing 2 ISO OMIM NCBI chr18:4,808,428...4,834,281
Ensembl chr18:4,808,469...4,835,804
JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAD2L2 mitotic arrest deficient 2 like 2 ISO OMIM NCBI chr 6:71,773,680...71,779,192
Ensembl chr 6:71,773,681...71,779,183
JBrowse link
Fanconi Anemia Complementation Group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RFWD3 ring finger and WD repeat domain 3 ISO OMIM NCBI chr 6:12,952,243...12,994,053
Ensembl chr 6:12,952,350...12,994,050
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,813...28,692,327
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC11A2 solute carrier family 11 member 2 ISO OMIM
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G PUS1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:28492532 NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,578...23,418,133
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PUS1 pseudouridine synthase 1 ISO OMIM NCBI chr14:23,400,575...23,418,470
Ensembl chr14:23,400,578...23,418,133
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 FGD4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chr 5:41,571,054...41,636,058 JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO OMIM NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
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 ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
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 chr 6:44,785,863...44,787,303
Ensembl chr 6:44,784,159...44,787,307
JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16892088 PMID:18398482 PMID:18637800 RGD:11038732 NCBI chr  X:60,186,559...60,313,098
Ensembl chr  X:59,998,607...60,313,069
JBrowse link
G ALAD aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,196...254,027,485
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7949148 PMID:16716198 PMID:16892088 RGD:1599037 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,521...47,896,003
JBrowse link
G CALR calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,225...66,102,340
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358
JBrowse link
G GLRX5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 7:116,787,346...116,797,477
Ensembl chr 7:116,787,432...116,800,554
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,246...140,531,845
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Sideroblastic anemia, acquired idiopathic ClinVar PMID:9389715 NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,664...24,044,782
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G TFRC transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,594...134,000,278
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 onset ISO DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
OMIM
RGD
PMID:7560104 PMID:11110715 RGD:11035241 RGD:11035243 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,521...47,896,003
JBrowse link
G APEX2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:47,862,682...47,870,579
Ensembl chr  X:47,862,667...47,885,840
JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar PMID:12663458 PMID:18823803 PMID:23315997 PMID:28492532 NCBI chr  X:47,916,076...47,919,904
Ensembl chr  X:47,862,689...47,919,899
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,664...24,044,782
JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO OMIM NCBI chr14:45,967,460...45,980,632
Ensembl chr14:45,967,502...45,980,628
JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRNT1 tRNA nucleotidyl transferase 1 ISO OMIM NCBI chr13:59,647,835...59,736,054
Ensembl chr13:59,711,140...59,736,054
JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human) OMIM
RGD
PMID:10196363 RGD:1598600 NCBI chr  X:60,186,559...60,313,098
Ensembl chr  X:59,998,607...60,313,069
JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic
ClinVar NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,521...47,896,003
JBrowse link
G PAGE2B PAGE family member 2B ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:47,916,076...47,919,904
Ensembl chr  X:47,862,689...47,919,899
JBrowse link
G SLC25A38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr13:24,030,571...24,043,866
Ensembl chr13:24,030,664...24,044,782
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13630
    disease of anatomical entity 13298
      hematopoietic system disease 1710
        anemia 393
          aplastic anemia 147
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndrome 1 1
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 105
            myelophthisic anemia 0
            pure red-cell aplasia + 61
            sideroblastic anemia + 22
Path 2
Term Annotations click to browse term
  disease 13630
    disease of anatomical entity 13298
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1710
          bone marrow disease 544
            Bone Marrow Failure Disorders 158
              aplastic anemia 147
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 105
                myelophthisic anemia 0
                pure red-cell aplasia + 61
                sideroblastic anemia + 22
paths to the root