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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:congenital hypoplastic anemia
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Accession:DOID:1342 term browser browse the term
Definition:An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.
Synonyms:exact_synonym: congenital aplastic anaemia;   congenital aplastic anemia;   congenital hypoplastic anaemia;   congenital hypoplastic anemias
 related_synonym: constitutional aplastic anaemia
 primary_id: MESH:D029502
 xref: ICD10CM:D61.0;   ICD10CM:D61.01;   ICD9CM:284.0
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861 		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:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		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 LOC100361854 ribosomal protein S26-like 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  X:107,822,116...107,822,555
Ensembl chr  X:107,822,178...107,822,525 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar		 PMID:24942156 NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170 		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:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		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 chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		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 chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		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 chr10:53,650,521...53,662,914
Ensembl chr10:53,650,553...53,663,913 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837 		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 chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632 		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 chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		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 chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849 		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 chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911 		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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743 		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 chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471 		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 chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		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:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		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 chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		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 chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097 		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 chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794 		JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		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 chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494 		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 chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359 		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 chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II
ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		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 chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840 		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 chr10:54,061,054...54,061,726
Ensembl chr10:54,059,947...54,063,010 		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 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966 		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 chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290 		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 chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 		JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... RGD:1599572, RGD:1599571
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 5:16,819,313...16,820,475
Ensembl chr 5:16,819,304...16,820,475 		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 chr16:89,538...94,267
Ensembl chr16:89,604...94,279 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:45,266,200...45,271,064 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 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247 		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 chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:141,793,695...141,795,558 JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447 		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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331 		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 chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:14,405,096...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Zfp846 zinc finger protein 846 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 8:19,119,788...19,137,120
Ensembl chr 8:19,119,945...19,137,281 		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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743 		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 chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar
OMIM		 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:12586610 More...
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 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341 		JBrowse link
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar Annotator: match by OMIM:613309		 OMIM
ClinVar		 PMID:9536098 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 More... NCBI chr  X:107,822,116...107,822,555
Ensembl chr  X:107,822,178...107,822,525 		JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by OMIM:614900 OMIM
ClinVar		 PMID:22431104 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966 		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 chr15:7,492,806...7,503,828
Ensembl chr15:7,493,531...7,503,854 		JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by OMIM:615550		 OMIM
ClinVar		 PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165 		JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 ClinVar
OMIM		 PMID:24829207 PMID:25741868 NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636 		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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS		 OMIM
ClinVar		 PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620 		JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl27 ribosomal protein L27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 16 ClinVar
OMIM		 PMID:25424902 NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193 		JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 17 ClinVar
OMIM		 PMID:25424902 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl18 ribosomal protein L18 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 18 ClinVar
OMIM		 PMID:28280134 NCBI chr 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452 		JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl35 ribosomal protein L35 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 19 ClinVar
OMIM		 PMID:28280134 NCBI chr 3:22,753,255...22,756,217
Ensembl chr 3:22,753,253...22,756,243 		JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps15a ribosomal protein S15a ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 20 ClinVar
OMIM		 PMID:27909223 NCBI chr 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995 		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 chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by OMIM:610629		 OMIM
ClinVar		 PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 More... NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279 		JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by OMIM:612527 OMIM
ClinVar		 PMID:17647292 PMID:23718193 PMID:23812780 NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535 		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 null
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5		 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168 		JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)
ClinVar Annotator: match by OMIM:612528		 OMIM
ClinVar		 PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... RGD:11535072, RGD:11535069
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 chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743 		JBrowse link
G Rpl5 ribosomal protein L5 ISO 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)
DNA:snps, duplication, deletions:exons:multiple (human)		 OMIM
ClinVar		 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 More... RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290 		JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)		 OMIM
ClinVar		 PMID:16199547 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 More... RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599 		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 ClinVar Annotator: match by OMIM:612563
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 More... NCBI chr 6:45,266,200...45,271,064 JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
ClinVar Annotator: match by OMIM:613308		 OMIM
ClinVar		 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044 		JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar
OMIM		 PMID:28283061 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar PMID:1574115 PMID:1641028 PMID:08103176 PMID:8128956 PMID:8499901 More... NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 More... RGD:734658 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		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
ClinVar Annotator: match by term: Fanconi anemia		 CTD
ClinVar		 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G Fanca FA complementation group A disease_progression ISO ClinVar Annotator: match by OMIM:227650
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
DNA:missense mutations, splice-site mutations:exon, intron:multiple		 ClinVar
CTD		 PMID:1792455 PMID:2472832 PMID:8896563 PMID:09371798 PMID:9399890 More... RGD:11344919, RGD:11344914, RGD:11344899 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527 		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:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancc FA complementation group C onset ISO ClinVar Annotator: match by term: Fanconi Anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)		 ClinVar
CTD		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11344914, RGD:11041907 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Fancd2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 More... RGD:1601137, RGD:11344904 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		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 chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:16774934 More... NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
G Fancg FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar
CTD		 PMID:9536098 PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia
DNA:mutations: :multiple		 ClinVar PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... RGD:11344925 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:19405097 More... NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:95,615,056...95,620,463 JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr19:51,452,448...51,455,375 JBrowse link
G Mx1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507 		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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia		 CTD
ClinVar		 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920 		JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISS MouseDO NCBI chr 5:113,587,564...113,598,934
Ensembl chr 5:113,587,564...113,598,932 		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 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr14:100,313,771...100,434,605
Ensembl chr14:100,313,601...100,434,527 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 More... NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331 		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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Fanca FA complementation group A ISO 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 chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527 		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:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		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 chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		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 chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		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 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		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 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		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 chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295 		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 chr14:100,313,771...100,434,605
Ensembl chr14:100,313,601...100,434,527 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group B
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by term: Fanconi anemia, group C		 ClinVar PMID:1574115 PMID:1641028 PMID:08103176 PMID:8128956 PMID:8499901 More... NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Fancc FA complementation group C 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 Annotator: match by OMIM:227645
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group D1
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:1234 PMID:1232165 PMID:1628499 PMID:1843150 PMID:1990134 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		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 ClinVar Annotator: match by term: Fanconi anemia, complementation group D2
ClinVar Annotator: match by OMIM:227646		 OMIM
ClinVar		 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 PMID:17436244 More... NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		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 chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group E
ClinVar Annotator: match by OMIM:600901		 OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group F
ClinVar Annotator: match by OMIM:603467		 OMIM
ClinVar		 PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 More... NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G
ClinVar Annotator: match by OMIM:614082		 OMIM
ClinVar		 PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 More... NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		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 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609053		 OMIM
ClinVar		 PMID:17412408 PMID:17452773 PMID:17460694 PMID:17924555 PMID:18414213 More... RGD:11344924 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		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 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		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 ClinVar Annotator: match by term: Fanconi anemia, complementation group J
DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by OMIM:609054		 OMIM
ClinVar		 PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 More... RGD:11251781 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L
ClinVar Annotator: match by OMIM:614083		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		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 chr14:100,313,771...100,434,605
Ensembl chr14:100,313,601...100,434,527 		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 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		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 ClinVar Annotator: match by term: Fanconi anemia, complementation group N
ClinVar Annotator: match by OMIM:610832		 OMIM
ClinVar		 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		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 chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O
ClinVar Annotator: match by OMIM:613390		 OMIM
ClinVar		 PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 More... NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:72,461,508...72,535,977
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768 		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 chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805 		JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group P
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More... NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group Q
ClinVar Annotator: match by term: Fanconi anemia, complementation group q
ClinVar Annotator: match by OMIM:615272		 OMIM
ClinVar		 PMID:16550608 PMID:23623386 PMID:24728327 PMID:25741868 PMID:28292785 More... NCBI chr10:2,416,259...2,448,364 JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035 		JBrowse link
Fanconi Anemia Complementation Group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S
ClinVar Annotator: match by term: Fanconi anemia, complementation group S		 ClinVar
OMIM		 PMID:2618727 PMID:7663517 PMID:7795652 PMID:7837387 PMID:7894493 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		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 E2T ISO 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 chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835 		JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group U OMIM
ClinVar		 PMID:11118202 PMID:20189471 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482 		JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group V ClinVar
OMIM		 PMID:27500492 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693 		JBrowse link
Fanconi Anemia Complementation Group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfwd3 ring finger and WD repeat domain 3 ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP W
ClinVar Annotator: match by term: Fanconi anemia, complementation group W		 ClinVar
OMIM		 PMID:25741868 PMID:26474068 PMID:28691929 PMID:33044890 NCBI chr19:39,235,883...39,268,536
Ensembl chr19:39,236,787...39,268,479 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    physical disorder 3086
      congenital hypoplastic anemia 115
        Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
        Diamond-Blackfan anemia + 65
        Fanconi anemia + 48
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1908
          bone marrow disease 602
            Bone Marrow Failure Disorders 175
              aplastic anemia 163
                congenital hypoplastic anemia 115
                  Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
                  Diamond-Blackfan anemia + 65
                  Fanconi anemia + 48
paths to the root