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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 Hypoplastic Anemias;   congenital aplastic anaemia;   congenital aplastic anemia;   congenital hypoplastic anaemia
 related_synonym: Constitutional aplastic anaemia
 primary_id: MESH:D029502
 alt_id: RDO:0005570
 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 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628 		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:23718193, PMID:24942156, PMID:28492532 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045 		JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar		 PMID:24942156 NCBI chr 7:18,682,071...18,683,440
Ensembl chr 7:18,682,071...18,683,440 		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:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639 		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:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911 		JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,993,206...55,997,429
Ensembl chr10:55,995,823...55,997,299 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985, PMID:19773262, PMID:20960466, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28694211, PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,029,022...56,154,602
Ensembl chr10:56,029,029...56,154,548 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,161,431...56,168,819
Ensembl chr10:56,161,432...56,167,426 		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 chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379, PMID:22706301, PMID:23704091, PMID:24453067, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066 		JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687 		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:28492532 NCBI chr10:55,927,228...55,933,653
Ensembl chr10:55,927,223...55,933,653 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885 		JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,997,614...55,998,691
Ensembl chr10:55,997,614...55,998,691 		JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,510,333...55,516,315
Ensembl chr10:55,510,340...55,515,885 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978 		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:25741868, PMID:27029625 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990 		JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422 		JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,940,533...55,941,205
Ensembl chr10:55,940,533...55,941,205 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985, PMID:19773262, PMID:22689679, PMID:28492532 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985, PMID:19773262, PMID:20960466, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28694211, PMID:28991257 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20116044, PMID:20159986, PMID:23718193, PMID:28065601, PMID:28132843, PMID:28492532 NCBI chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548 		JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657 		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, PMID:12586610, PMID:12750732, PMID:15059149, PMID:15075082, PMID:15384984, PMID:16159874, PMID:17053056, PMID:17082006, PMID:17517689, PMID:17726054, PMID:18412286, PMID:18768533, PMID:20378560, PMID:20395159, PMID:20603584, PMID:20606162, PMID:20960466, PMID:23349008, PMID:24952648, PMID:25946618, PMID:26136524, PMID:27329125, PMID:28102861, PMID:28376382, PMID:28492532, PMID:15523650, PMID:9988267 RGD:1599572, RGD:1599571 NCBI chr 1:81,750,873...81,756,629
Ensembl chr 1:81,750,928...81,756,627 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470, PMID:19689926, PMID:25741868, PMID:27029625, PMID:28492532 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:47,899,525...47,904,389
Ensembl chr 6:47,899,525...47,904,437 		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 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986 		JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,554,911...55,559,083
Ensembl chr10:55,555,089...55,559,082 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,998,530...56,000,225
Ensembl chr10:55,998,530...56,000,225 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532, PMID:30146126 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,924,996...55,926,582
Ensembl chr10:55,924,938...55,926,783 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,675,171...55,679,405
Ensembl chr10:55,675,575...55,679,450 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857 		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, PMID:28492532 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333 		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, PMID:28492532 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397 		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, PMID:12750732, PMID:15384984, PMID:16159874, PMID:17053056, PMID:17082006, PMID:17517689, PMID:17726054, PMID:18412286, PMID:18768533, PMID:20378560, PMID:20395159, PMID:20606162, PMID:23812780, PMID:24033266, PMID:24952648, PMID:25741868, PMID:28102861, PMID:28492532 NCBI chr 1:81,750,873...81,756,629
Ensembl chr 1:81,750,928...81,756,627 		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 7:3,061,422...3,098,142
Ensembl chr 7:3,061,469...3,074,359 		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:17483715, PMID:19816270, PMID:20116044, PMID:21414820, PMID:23718193, PMID:23812780, PMID:24942156, PMID:25741868, PMID:26136524, PMID:28102861, PMID:28492532, PMID:29114930 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045 		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 chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012 		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 NCBI chr15:8,179,090...8,188,656
Ensembl chr15:8,179,102...8,183,682 		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 NCBI chr15:8,188,717...8,192,153
Ensembl chr15:8,189,253...8,192,152 		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, PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696 		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 OMIM
ClinVar		 PMID:11424144, PMID:24942156 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639 		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 chr10:89,352,864...89,356,563
Ensembl chr10:89,352,835...89,356,547 		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 2:189,572,175...189,573,280
Ensembl chr 2:189,572,176...189,573,280 		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 1:101,700,910...101,703,551
Ensembl chr 1:101,701,975...101,703,550 		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 3:23,294,813...23,297,774
Ensembl chr 3:23,294,814...23,297,774 		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 1:187,759,865...187,766,734
Ensembl chr 1:187,759,480...187,766,709 		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 chr16:717,821...756,002
Ensembl chr16:716,683...755,990 		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:28492532 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075 		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 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657 		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:18535205, PMID:22262766, PMID:22689679, PMID:25741868, PMID:25946618, PMID:28492532 NCBI chr11:70,967,228...71,007,708
Ensembl chr11:70,967,223...71,105,403 		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:18535205, PMID:22262766, PMID:22689679, PMID:25741868, PMID:25946618, PMID:28492532, PMID:22689679, PMID:18535205 RGD:11535072, RGD:11535069 NCBI chr11:70,963,223...70,967,146
Ensembl chr12:7,186,473...7,186,873
Ensembl chr 5:7,186,473...7,186,873
Ensembl chr 1:7,186,473...7,186,873
Ensembl chr 6:7,186,473...7,186,873
Ensembl chr12:7,186,473...7,186,873 		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:23718193, PMID:25741868, PMID:28492532, PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333 		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:23718193, PMID:25741868, PMID:28492532, PMID:28991257, PMID:25946618, PMID:19061985, PMID:19773262, PMID:20378560, PMID:25132370, PMID:19191325 RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397 		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:19061985, PMID:19773262, PMID:25741868, PMID:28492532, PMID:26489471, PMID:25946618, PMID:19061985, PMID:20378560, PMID:19773262, PMID:19191325 RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328 		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:19061985, PMID:23718193, PMID:25741868, PMID:27882484, PMID:28492532 NCBI chr 6:47,899,525...47,904,389
Ensembl chr 6:47,899,525...47,904,437 		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 chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548 		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 chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		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:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:11050007, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:17924555, PMID:20869034, PMID:21520333, PMID:22720145, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:32566746 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar PMID:9971877, PMID:11030417, PMID:11185744, PMID:12491487, PMID:12955716, PMID:12960223, PMID:15026808, PMID:15070707, PMID:15635067, PMID:15645491, PMID:15876480, PMID:16825431, PMID:17924331, PMID:17972177, PMID:18284688, PMID:18431501, PMID:18627636, PMID:18779604, PMID:19043619, PMID:20104584, PMID:20127978, PMID:20927582, PMID:21120943, PMID:21218378, PMID:21523855, PMID:21548014, PMID:21702907, PMID:21719596, PMID:21990134, PMID:22009639, PMID:22034289, PMID:22126563, PMID:22228431, PMID:22293751, PMID:22486713, PMID:22874498, PMID:23555315, PMID:23704879, PMID:23893897, PMID:24033266, PMID:24055113, PMID:24123850, PMID:24728327, PMID:25085752, PMID:25525159, PMID:25637381, PMID:25682074, PMID:25741868, PMID:26295337, PMID:26296701, PMID:26467025, PMID:26689913, PMID:26834852, PMID:26920070, PMID:27376475, PMID:28222693, PMID:28492532, PMID:28831036, PMID:29394989, PMID:29753700, PMID:29884841, PMID:30254663, PMID:31131967, PMID:12065746 RGD:734658 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
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, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581 		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 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438 		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:8502512, PMID:08896563, PMID:09371798, PMID:09399890, PMID:9711872, PMID:9721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16015582, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16445838, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:19423727, PMID:21273304, PMID:21279724, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22482891, PMID:22720145, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24689079, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25239263, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25703136, PMID:25741868, PMID:25751062, PMID:26136524, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26689913, PMID:26740942, PMID:26799702, PMID:26841305, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28687356, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29797310, PMID:29904161, PMID:30031030, PMID:30032139, PMID:30086788, PMID:30311386, PMID:12827451, PMID:11110674, PMID:15523645 RGD:11344919, RGD:11344914, RGD:11344899 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063 		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:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711 		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'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, PMID:8103176, PMID:8128956, PMID:08348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10666230, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21520333, PMID:21659346, PMID:22482891, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551, PMID:32566746, PMID:11110674, PMID:16429406 RGD:11344914, RGD:11041907 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615 		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:11239453, PMID:14667412, PMID:17308347, PMID:17436244, PMID:21356188, PMID:22720145, PMID:22828868, PMID:23613520, PMID:24033266, PMID:24728327, PMID:25703294, PMID:25741868, PMID:27041517, PMID:28202063, PMID:28492532, PMID:28678401, PMID:11239453, PMID:19287902 RGD:1601137, RGD:11344904 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142 		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:17924555, PMID:24728327, PMID:25741868, PMID:26033879, PMID:27714961, PMID:28102861, PMID:28492532 NCBI chr 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305 		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:9806458, PMID:09806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24033266, PMID:24136620, PMID:24584348, PMID:24728327, PMID:25703136, PMID:25741868, PMID:26689913, PMID:26968956, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:30031030, PMID:9806548 RGD:1599879 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
DNA:mutations: :multiple		 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452773, PMID:17460694, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:22720145, PMID:23613520, PMID:23783014, PMID:24033266, PMID:24989076, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26296701, PMID:26467025, PMID:26590883, PMID:28492532, PMID:28678401, PMID:28878254, PMID:29439820, PMID:26590883 RGD:11344925 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		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:12973351, PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26149689, PMID:26822237, PMID:26822949, PMID:27153395, PMID:27986371, PMID:28492532, PMID:29335925, PMID:30995915, PMID:31300551 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317 		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:16116422, PMID:17289582, PMID:18174376, PMID:18414213, PMID:19379763, PMID:19737859, PMID:19763152, PMID:20307669, PMID:21681190, PMID:22406018, PMID:23932590, PMID:24003026, PMID:25288723, PMID:25741868, PMID:26067930, PMID:26094658, PMID:26130695, PMID:26296701, PMID:26483394, PMID:26689913, PMID:26740942, PMID:26822949, PMID:28033443, PMID:28492532, PMID:28678401, PMID:28702895, PMID:28837157, PMID:28837162, PMID:28881617, PMID:29231814, PMID:29287190, PMID:29351780, PMID:29895858, PMID:30075111, PMID:30426508, PMID:30995915, PMID:31700994, PMID:32566746 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mx2 MX dynamin like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr11:38,035,306...38,066,185
Ensembl chr11:38,035,450...38,059,950 		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, PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520 		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, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873 		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, PMID:21750962, PMID:21980511, PMID:21990120, PMID:22167183, PMID:22370629, PMID:22451500, PMID:22476429, PMID:22725699, PMID:23117857, PMID:24082139, PMID:24504028, PMID:25086635, PMID:25470109, PMID:25741868, PMID:26057125, PMID:26261251, PMID:26406419, PMID:26467025, PMID:26483394, PMID:26740214, PMID:27153395, PMID:28492532 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472 		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:19596235, PMID:19596236, PMID:21240275, PMID:21240276, PMID:21240277, PMID:21805310, PMID:22383991, PMID:22401137, PMID:22911665, PMID:23211700, PMID:23840564, PMID:24037726, PMID:24763404, PMID:25288723, PMID:25326635, PMID:25741868, PMID:26201965, PMID:26824983, PMID:28125078, PMID:28202063, PMID:28492532, PMID:28678401, PMID:28717660, PMID:29868112 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928 		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 chr19:56,136,904...56,175,500
Ensembl chr19:56,136,904...56,175,500 		JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr19:56,178,905...56,213,299
Ensembl chr19:56,179,111...56,213,310 		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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISS MouseDO NCBI chr 5:117,583,502...117,594,872
Ensembl chr 5:117,583,502...117,594,870 		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 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845 		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:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803 		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:9721219, PMID:10090479, PMID:10094191, PMID:10521298, PMID:11091222, PMID:12444097, PMID:15059067, PMID:15523645, PMID:15643609, PMID:16084127, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:21273304, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26296701, PMID:26689913, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:28767289, PMID:29098742, PMID:29904161, PMID:30032139 NCBI chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581 		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, PMID:26689913, PMID:28492532, PMID:30031030, PMID:32566746 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582 		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, PMID:17574969, PMID:17924331, PMID:19200354, PMID:19563646, PMID:20516115, PMID:21324516, PMID:21356067, PMID:21473589, PMID:21702907, PMID:21965345, PMID:21990134, PMID:22889855, PMID:23867111, PMID:24055113, PMID:24569164, PMID:25472942, PMID:25741868, PMID:26467025, PMID:28265380, PMID:28324225, PMID:28477318, PMID:28492532, PMID:28724667, PMID:28831036, PMID:29712865, PMID:30103829 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar
OMIM		 PMID:1792455, PMID:2339692, PMID:2472832, PMID:8502512, PMID:08896563, PMID:08896564, PMID:9371798, PMID:09399890, PMID:9711872, PMID:09721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:10862090, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12827451, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15522956, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17327415, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19109555, PMID:19139070, PMID:19278965, PMID:19367192, PMID:19423727, PMID:20435624, PMID:21273304, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25168418, PMID:25239263, PMID:25288723, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25741868, PMID:25751062, PMID:25953249, PMID:26136524, PMID:26140431, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26580448, PMID:26689913, PMID:26740942, PMID:26799702, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29904161, PMID:30032139, PMID:30086788, PMID:30311386 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063 		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:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711 		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:08844212, PMID:8882868, PMID:9521584, PMID:09616183, PMID:12670332, PMID:14695169, PMID:14726700, PMID:15695377, PMID:23028338, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26689913, PMID:26740942, PMID:27153395, PMID:28492532, PMID:28767289, PMID:30031030, PMID:32566746 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615 		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 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		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 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:19405097, PMID:21279724, PMID:25741868, PMID:26822237, PMID:26822949, PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317 		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, PMID:25288723, PMID:25741868, PMID:28492532, PMID:28837162, PMID:29231814, PMID:29351780, PMID:30075111, PMID:31700994 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633 		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, PMID:26201965, PMID:28202063, PMID:28492532, PMID:28717660 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:19405097, PMID:21279724, PMID:25741868, PMID:26822237, PMID:26822949, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803 		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:09721219, PMID:10090479, PMID:10094191, PMID:10521298, PMID:11091222, PMID:12444097, PMID:12955722, PMID:15059067, PMID:15522956, PMID:15523645, PMID:15643609, PMID:16084127, PMID:17924555, PMID:18414213, PMID:19109555, PMID:19139070, PMID:19278965, PMID:19367192, PMID:21273304, PMID:22778927, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:26296701, PMID:26689913, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:28767289, PMID:28864460, PMID:29098742, PMID:29904161, PMID:30032139 NCBI chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581 		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, PMID:23613520, PMID:24033266, PMID:25168418, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711 		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 PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:10431244, PMID:11050007, PMID:12093742, PMID:12670332, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17924555, PMID:19278965, PMID:20869034, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by OMIM:227645
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:1574115, PMID:1641028, PMID:7492758, PMID:7689011, PMID:8081385, PMID:8103176, PMID:8128956, PMID:08348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10431244, PMID:10666230, PMID:10994546, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19278965, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21659346, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:23934222, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615 		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:18, PMID:1234, PMID:1232165, PMID:1517275, PMID:1684755, PMID:1843150, PMID:1990134, PMID:2073695, PMID:2199013, PMID:2928257, PMID:3108138, PMID:4055113, PMID:7924331, PMID:8075631, PMID:8415037, PMID:8524414, PMID:8640236, PMID:8673090, PMID:8673091, PMID:8673092, PMID:8705994, PMID:8758903, PMID:8840963, PMID:8841191, PMID:8841192, PMID:8896551, PMID:9042907, PMID:9042909, PMID:9126734, PMID:9145676, PMID:9150152, PMID:9150154, PMID:9150172, PMID:9667259, PMID:9758598, PMID:9761393, PMID:9771877, PMID:9792861, PMID:9971877, PMID:10359546, PMID:10399947, PMID:10417300, PMID:10433620, PMID:10449599, PMID:10453741, PMID:10464609, PMID:10534775, PMID:10551859, PMID:10570174, PMID:10644434, PMID:10699917, PMID:10717622, PMID:10728701, PMID:10755399, PMID:10800284, PMID:10882858, PMID:10923033, PMID:10969800, PMID:10978364, PMID:11030417, PMID:11030418, PMID:11062481, PMID:11106241, PMID:11149425, PMID:11180449, PMID:11185744, PMID:11241844, PMID:11304778, PMID:11307153, PMID:11389159, PMID:11400546, PMID:11447276, PMID:11556836, PMID:11595708, PMID:11698567, PMID:11710835, PMID:11802209, PMID:11843247, PMID:11873550, PMID:11927503, PMID:11929857, PMID:11948123, PMID:11950811, PMID:12065746, PMID:12097257, PMID:12097290, PMID:12100744, PMID:12161607, PMID:12204006, PMID:12215251, PMID:12228710, PMID:12237285, PMID:12373604, PMID:12442171, PMID:12442274, PMID:12453858, PMID:12473589, PMID:12474142, PMID:12491487, PMID:12491499, PMID:12527904, PMID:12552570, PMID:12556369, PMID:12624724, PMID:12670525, PMID:12684407, PMID:12750298, PMID:12754708, PMID:12759930, PMID:12815053, PMID:12845657, PMID:12942367, PMID:12955716, PMID:12955719, PMID:12960223, PMID:14555511, PMID:14559878, PMID:14576434, PMID:14647210, PMID:14647438, PMID:14670928, PMID:14684619, PMID:14732925, PMID:14973102, PMID:15004464, PMID:15026808, PMID:15070707, PMID:15115758, PMID:15117986, PMID:15131399, PMID:15146557, PMID:15168169, PMID:15172753, PMID:15235023, PMID:15290653, PMID:15317758, PMID:15365993, PMID:15382066, PMID:15533909, PMID:15617999, PMID:15635067, PMID:15645491, PMID:15689453, PMID:15695382, PMID:15744044, PMID:15799620, PMID:15800311, PMID:15800615, PMID:15806175, PMID:15876480, PMID:15918047, PMID:15955690, PMID:15983021, PMID:15994883, PMID:16030099, PMID:16047333, PMID:16115142, PMID:16162645, PMID:16168118, PMID:16168123, PMID:16234499, PMID:16261408, PMID:16284991, PMID:16389418, PMID:16455195, PMID:16489001, PMID:16550498, PMID:16683254, PMID:16685647, PMID:16741161, PMID:16758124, PMID:16760289, PMID:16792514, PMID:16825431, PMID:16826315, PMID:16847550, PMID:16905680, PMID:16912212, PMID:16920162, PMID:16931905, PMID:16949048, PMID:17018160, PMID:17026620, PMID:17087817, PMID:17100994, PMID:17148771, PMID:17233897, PMID:17250666, PMID:17257844, PMID:17262179, PMID:17289875, PMID:17308087, PMID:17333343, PMID:17341484, PMID:17453335, PMID:17503080, PMID:17513806, PMID:17515903, PMID:17591843, PMID:17591940, PMID:17592676, PMID:17624602, PMID:17657584, PMID:17686308, PMID:17724471, PMID:17767707, PMID:17899372, PMID:17924331, PMID:17925560, PMID:17971607, PMID:17972177, PMID:17997147, PMID:18006916, PMID:18042939, PMID:18092194, PMID:18176857, PMID:18268356, PMID:18284688, PMID:18312450, PMID:18375895, PMID:18403564, PMID:18418466, PMID:18431501, PMID:18451181, PMID:18465347, PMID:18489799, PMID:18497862, PMID:18559594, PMID:18593900, PMID:18607349, PMID:18627636, PMID:18627637, PMID:18693280, PMID:18703817, PMID:18724707, PMID:18779604, PMID:18824701, PMID:18844490, PMID:18951449, PMID:18951461, PMID:19016756, PMID:19030985, PMID:19043619, PMID:19188187, PMID:19200354, PMID:19229607, PMID:19393826, PMID:19471317, PMID:19473207, PMID:19491284, PMID:19499246, PMID:19540122, PMID:19619314, PMID:19656415, PMID:19747923, PMID:19795481, PMID:19799798, PMID:19861517, PMID:19863560, PMID:19941162, PMID:20010525, PMID:20041885, PMID:20054658, PMID:20104584, PMID:20127978, PMID:20135345, PMID:20167696, PMID:20195775, PMID:20215541, PMID:20216074, PMID:20301425, PMID:20380699, PMID:20383589, PMID:20589654, PMID:20608899, PMID:20614180, PMID:20683152, PMID:20694749, PMID:20736950, PMID:20858050, PMID:20887823, PMID:20927582, PMID:20960228, PMID:21042765, PMID:21120943, PMID:21156238, PMID:21203900, PMID:21218378, PMID:21232165, PMID:21233401, PMID:21279724, PMID:21324516, PMID:21356067, PMID:21394826, PMID:21465317, PMID:21497495, PMID:21520273, PMID:21520333, PMID:21548014, PMID:21638052, PMID:21671020, PMID:21673748, PMID:21702907, PMID:21719596, PMID:21769658, PMID:21789034, PMID:21939546, PMID:21952622, PMID:21965345, PMID:21990134, PMID:21990165, PMID:22006311, PMID:22009639, PMID:22034289, PMID:22126563, PMID:22144684, PMID:22160602, PMID:22217648, PMID:22366370, PMID:22425665, PMID:22430266, PMID:22460208, PMID:22476429, PMID:22486713, PMID:22505045, PMID:22535016, PMID:22632462, PMID:22655046, PMID:22666503, PMID:22678057, PMID:22684231, PMID:22703879, PMID:22711857, PMID:22713736, PMID:22720145, PMID:22729890, PMID:22752604, PMID:22753899, PMID:22762150, PMID:22798144, PMID:22811390, PMID:22848303, PMID:22874498, PMID:22875147, PMID:22913592, PMID:22921157, PMID:22921312, PMID:22923021, PMID:22962691, PMID:22970155, PMID:22977638, PMID:22995991, PMID:23071527, PMID:23096105, PMID:23096355, PMID:23108138, PMID:23199084, PMID:23231788, PMID:23249957, PMID:23318356, PMID:23320992, PMID:23328489, PMID:23341105, PMID:23415752, PMID:23469205, PMID:23479189, PMID:23531862, PMID:23535729, PMID:23555315, PMID:23593081, PMID:23621881, PMID:23633455, PMID:23635950, PMID:23658460, PMID:23683081, PMID:23704879, PMID:23729402, PMID:23767878, PMID:23884708, PMID:23893897, PMID:23929434, PMID:23940062, PMID:23942203, PMID:23960188, PMID:23983145, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24094589, PMID:24123850, PMID:24156927, PMID:24301060, PMID:24312913, PMID:24323938, PMID:24337145, PMID:24348212, PMID:24372583, PMID:24448499, PMID:24489791, PMID:24504028, PMID:24556621, PMID:24607278, PMID:24618965, PMID:24728189, PMID:24728327, PMID:24737347, PMID:24814045, PMID:24817641, PMID:24884479, PMID:24916970, PMID:25011685, PMID:25066507, PMID:25085752, PMID:25136594, PMID:25146914, PMID:25186627, PMID:25203624, PMID:25233892, PMID:25348012, PMID:25382762, PMID:25395318, PMID:25452441, PMID:25479140, PMID:25525159, PMID:25556971, PMID:25569433, PMID:25637381, PMID:25682074, PMID:25741868, PMID:25777348, PMID:25782689, PMID:25801821, PMID:25802882, PMID:25863477, PMID:25896959, PMID:25948282, PMID:25980754, PMID:26064523, PMID:26155992, PMID:26183948, PMID:26187060, PMID:26207792, PMID:26287763, PMID:26295337, PMID:26296701, PMID:26306726, PMID:26315209, PMID:26332594, PMID:26440929, PMID:26455428, PMID:26467025, PMID:26483394, PMID:26517685, PMID:26541979, PMID:26577449, PMID:26580448, PMID:26586665, PMID:26657402, PMID:26681312, PMID:26681682, PMID:26689913, PMID:26692440, PMID:26709275, PMID:26724258, PMID:26740942, PMID:26761715, PMID:26780556, PMID:26834852, PMID:26845104, PMID:26848529, PMID:26867194, PMID:26898890, PMID:26920070, PMID:26968956, PMID:27062684, PMID:27124784, PMID:27153395, PMID:27257965, PMID:27376475, PMID:27383479, PMID:27393621, PMID:27469594, PMID:27495310, PMID:27498913, PMID:27516001, PMID:27616075, PMID:27628236, PMID:27633797, PMID:27658390, PMID:27701467, PMID:27732944, PMID:27741520, PMID:27767231, PMID:27831900, PMID:27907908, PMID:28008555, PMID:28111427, PMID:28132688, PMID:28152038, PMID:28222693, PMID:28231738, PMID:28288110, PMID:28294317, PMID:28301460, PMID:28324225, PMID:28339459, PMID:28346442, PMID:28364669, PMID:28422718, PMID:28439188, PMID:28477318, PMID:28492532, PMID:28541631, PMID:28640387, PMID:28664449, PMID:28678401, PMID:28724667, PMID:28726806, PMID:28767289, PMID:28807866, PMID:28814288, PMID:28831036, PMID:28843361, PMID:28975465, PMID:28993434, PMID:29020732, PMID:29084914, PMID:29088781, PMID:29126202, PMID:29192238, PMID:29215753, PMID:29240602, PMID:29288066, PMID:29321669, PMID:29339979, PMID:29368341, PMID:29394989, PMID:29433453, PMID:29446198, PMID:29470806, PMID:29492181, PMID:29580235, PMID:29642553, PMID:29667044, PMID:29731985, PMID:29752822, PMID:29753700, PMID:29802286, PMID:29854292, PMID:29884841, PMID:29907814, PMID:29988080, PMID:30093976, PMID:30199306, PMID:30207912, PMID:30212499, PMID:30254663, PMID:30286154, PMID:30287823, PMID:30311386, PMID:30350268, PMID:30400234, PMID:30472649, PMID:30606148, PMID:30702160, PMID:30825404, PMID:31131967, PMID:32438681 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748 		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:16280053, PMID:17308347, PMID:17436244, PMID:21356188, PMID:22720145, PMID:22828868, PMID:23613520, PMID:24033266, PMID:24728327, PMID:25168418, PMID:25703294, PMID:25741868, PMID:27041517, PMID:28202063, PMID:28492532, PMID:32581362 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479 		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, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748 		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:10205272, PMID:11001585, PMID:14695169, PMID:15609317, PMID:16774934, PMID:17308347, PMID:17924555, PMID:18271933, PMID:21279724, PMID:22778927, PMID:24033266, PMID:24728327, PMID:25058500, PMID:25741868, PMID:26822949, PMID:27165003, PMID:28492532, PMID:28678401, PMID:30311386, PMID:30609409 NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142 		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, PMID:18271933, PMID:22778927, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26033879, PMID:27714961, PMID:28102861, PMID:28492532 NCBI chr 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305 		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, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24136620, PMID:24300640, PMID:24728327, PMID:24763404, PMID:25703136, PMID:25741868, PMID:26968956, PMID:28102861, PMID:28492532, PMID:28717661, PMID:30031030 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819 		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 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953 		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, PMID:18931676, PMID:21324748, PMID:22720145, PMID:22778927, PMID:23093618, PMID:23524600, PMID:23613520, PMID:24989076, PMID:25741868, PMID:26296701, PMID:26467025, PMID:26590883, PMID:27987238, PMID:28492532, PMID:28678401, PMID:28878254, PMID:29439820, PMID:17452773 RGD:11344924 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483 		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, PMID:27987238, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting protein C-terminal helicase 1 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:11301010, PMID:12565990, PMID:12569564, PMID:12872252, PMID:14983014, PMID:15285897, PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:16280053, PMID:16430786, PMID:16973432, PMID:17033622, PMID:17145708, PMID:17342202, PMID:17596542, PMID:18414782, PMID:18426915, PMID:18483852, PMID:18510924, PMID:18628483, PMID:19099189, PMID:19127258, PMID:19150983, PMID:19197335, PMID:19339519, PMID:19379763, PMID:19442249, PMID:19519404, PMID:19584272, PMID:19763819, PMID:19935797, PMID:20068231, PMID:20159562, PMID:20168331, PMID:20177395, PMID:20639400, PMID:20980836, PMID:21127055, PMID:21165771, PMID:21279724, PMID:21345144, PMID:21356067, PMID:21409391, PMID:21964575, PMID:22006311, PMID:22024395, PMID:22287629, PMID:22582397, PMID:22692731, PMID:22792074, PMID:23161009, PMID:23276657, PMID:23555315, PMID:23613520, PMID:23644138, PMID:23935105, PMID:24033266, PMID:24123366, PMID:24240112, PMID:24376576, PMID:24448499, PMID:24487782, PMID:24556621, PMID:24573678, PMID:24584348, PMID:24728327, PMID:24755471, PMID:24763289, PMID:24895130, PMID:25058500, PMID:25186627, PMID:25256751, PMID:25318351, PMID:25374583, PMID:25452441, PMID:25525159, PMID:25583461, PMID:25722345, PMID:25741868, PMID:25846551, PMID:25980754, PMID:25981591, PMID:26206375, PMID:26207792, PMID:26264438, PMID:26296696, PMID:26315354, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26596371, PMID:26635394, PMID:26659599, PMID:26681312, PMID:26681682, PMID:26689913, PMID:26709662, PMID:26720728, PMID:26757417, PMID:26786923, PMID:26790966, PMID:26822149, PMID:26822949, PMID:26824983, PMID:26845104, PMID:26901136, PMID:26911350, PMID:26921362, PMID:26968956, PMID:26976419, PMID:27074266, PMID:27107905, PMID:27150160, PMID:27153395, PMID:27165003, PMID:27179029, PMID:27193682, PMID:27378695, PMID:27427815, PMID:27433846, PMID:27443514, PMID:27498913, PMID:27527004, PMID:27547810, PMID:27553368, PMID:27621404, PMID:27701467, PMID:27978560, PMID:27997549, PMID:28076423, PMID:28135145, PMID:28152038, PMID:28202063, PMID:28423363, PMID:28492532, PMID:28495237, PMID:28503720, PMID:28528518, PMID:28678401, PMID:28709830, PMID:28717660, PMID:28767289, PMID:28796317, PMID:28911102, PMID:28961279, PMID:29263802, PMID:29335925, PMID:29338689, PMID:29360161, PMID:29368626, PMID:29470806, PMID:29625052, PMID:29636988, PMID:29667044, PMID:29788478, PMID:29922827, PMID:29929473, PMID:30086788, PMID:30093976, PMID:30130155, PMID:30230034, PMID:30262796, PMID:30295334, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30414346, PMID:30728895, PMID:30982232, PMID:31159747, PMID:31214711, PMID:31265121, PMID:31341520, PMID:31822495, PMID:31843900, PMID:32566746, PMID:26968956 RGD:11251781 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581 		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:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:25754594, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L ClinVar PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803 		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 OMIM
ClinVar		 PMID:16116422, PMID:19423727, PMID:19737859, PMID:25741868, PMID:28492532 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633 		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, PMID:17420451, PMID:17924555, PMID:18288683, PMID:18302019, PMID:18446436, PMID:18987736, PMID:19264984, PMID:19333784, PMID:19369211, PMID:19584259, PMID:19609323, PMID:19635604, PMID:19763884, PMID:20091115, PMID:20122277, PMID:20180015, PMID:20412113, PMID:20582465, PMID:20589654, PMID:20722467, PMID:20852946, PMID:20927582, PMID:21113654, PMID:21165770, PMID:21285249, PMID:21356067, PMID:21365267, PMID:21409391, PMID:21618343, PMID:21932393, PMID:22052327, PMID:22241545, PMID:22310028, PMID:22692731, PMID:22995991, PMID:23341105, PMID:23448497, PMID:23555315, PMID:23824750, PMID:23935836, PMID:23977390, PMID:24033266, PMID:24141787, PMID:24206657, PMID:24415441, PMID:24448499, PMID:24556926, PMID:24728327, PMID:24949998, PMID:25099575, PMID:25117502, PMID:25186627, PMID:25225577, PMID:25356972, PMID:25447460, PMID:25452441, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25575445, PMID:25666743, PMID:25741868, PMID:25794774, PMID:25980754, PMID:26094658, PMID:26283626, PMID:26315354, PMID:26411315, PMID:26467025, PMID:26489409, PMID:26534844, PMID:26564480, PMID:26649820, PMID:26681312, PMID:26689913, PMID:26692951, PMID:26740942, PMID:26845104, PMID:26878173, PMID:26898890, PMID:26976419, PMID:26990772, PMID:27067391, PMID:27099641, PMID:27106063, PMID:27153395, PMID:27328445, PMID:27356891, PMID:27397723, PMID:27573125, PMID:27595995, PMID:27616075, PMID:27621404, PMID:27783279, PMID:27829436, PMID:27930734, PMID:27978560, PMID:28008555, PMID:28051113, PMID:28152038, PMID:28279176, PMID:28281021, PMID:28319063, PMID:28380452, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28664506, PMID:28767289, PMID:28779002, PMID:28796317, PMID:28825143, PMID:28873162, PMID:29052111, PMID:29190888, PMID:29263802, PMID:29360161, PMID:29368341, PMID:29522266, PMID:29667044, PMID:29802286, PMID:29909963, PMID:30287823, PMID:30306255, PMID:30982232, PMID:31159747, PMID:31586400, PMID:31636395, PMID:32566746 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520 		JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:12442171, PMID:12966089, PMID:14704354, PMID:15126333, PMID:15170666, PMID:18203022, PMID:20052722, PMID:20400963, PMID:20400964, PMID:20697805, PMID:20723205, PMID:20952512, PMID:21447597, PMID:21537932, PMID:21597919, PMID:21616938, PMID:21750962, PMID:21980511, PMID:21990120, PMID:22006311, PMID:22167183, PMID:22370629, PMID:22451500, PMID:22476429, PMID:22538716, PMID:22725699, PMID:22810696, PMID:23117857, PMID:23176254, PMID:23500037, PMID:23704328, PMID:24082139, PMID:24139550, PMID:24141787, PMID:24240112, PMID:24315737, PMID:24359560, PMID:24504028, PMID:24549055, PMID:24631219, PMID:24763404, PMID:24800917, PMID:24993905, PMID:24998779, PMID:25086635, PMID:25154786, PMID:25186627, PMID:25292178, PMID:25318351, PMID:25338684, PMID:25452441, PMID:25470109, PMID:25525159, PMID:25741868, PMID:25833843, PMID:25980754, PMID:26057125, PMID:26103414, PMID:26261251, PMID:26270727, PMID:26354865, PMID:26406419, PMID:26467025, PMID:26483394, PMID:26556299, PMID:26580448, PMID:26681312, PMID:26687385, PMID:26689913, PMID:26691941, PMID:26720728, PMID:26740214, PMID:26822949, PMID:26824983, PMID:26845104, PMID:26848151, PMID:26976419, PMID:27037238, PMID:27149507, PMID:27149842, PMID:27153395, PMID:27230542, PMID:27328445, PMID:27433846, PMID:27443514, PMID:27616075, PMID:27621404, PMID:27622768, PMID:27852271, PMID:27878467, PMID:27913932, PMID:27978560, PMID:28123851, PMID:28135145, PMID:28152038, PMID:28202063, PMID:28281021, PMID:28492532, PMID:28588062, PMID:28678401, PMID:28709830, PMID:28767289, PMID:28802053, PMID:28829762, PMID:28864920, PMID:28873162, PMID:28905878, PMID:28975465, PMID:29020732, PMID:29053726, PMID:29054568, PMID:29158291, PMID:29255180, PMID:29278735, PMID:29360161, PMID:29409816, PMID:29458332, PMID:29470806, PMID:29522266, PMID:29566657, PMID:29659569, PMID:29752822, PMID:29785153, PMID:29922827, PMID:29978187, PMID:30086788, PMID:30128536, PMID:30257646, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30426508, PMID:30551670, PMID:30927251, PMID:30949688, PMID:30995915, PMID:31300551, PMID:31422574, PMID:31843900, PMID:32566746 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472 		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:21240275, PMID:21240277, PMID:21805310, PMID:22383991, PMID:22401137, PMID:22911665, PMID:23211700, PMID:23840564, PMID:25288723, PMID:25326635, PMID:25741868, PMID:26201965, PMID:28202063, PMID:28492532, PMID:28717660 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928 		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:23623386, PMID:25741868, PMID:28292785, PMID:28492532, PMID:30165384, PMID:30658521 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891 		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:24808016, PMID:25741868, PMID:25813273, PMID:26253028, PMID:26681308 NCBI chr 3:110,918,240...110,942,920
Ensembl chr 3:110,918,243...110,942,917 		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
OMIM		 PMID:7795652, PMID:7837387, PMID:7894493, PMID:8554067, PMID:8606385, PMID:8644702, PMID:8807330, PMID:8968102, PMID:9159158, PMID:9333265, PMID:9361038, PMID:9525870, PMID:9609997, PMID:9663595, PMID:10788334, PMID:10945975, PMID:11157798, PMID:11278247, PMID:11320250, PMID:11389159, PMID:11436123, PMID:11597388, PMID:11802209, PMID:12142080, PMID:12204006, PMID:12393792, PMID:12491499, PMID:12496476, PMID:12531920, PMID:12566964, PMID:12601471, PMID:12732733, PMID:12810666, PMID:12938098, PMID:14760071, PMID:14976165, PMID:15001988, PMID:15004537, PMID:15024741, PMID:15172985, PMID:15235020, PMID:15290653, PMID:15365993, PMID:15383404, PMID:15569676, PMID:15876480, PMID:16168118, PMID:16227521, PMID:16267036, PMID:16280041, PMID:16284991, PMID:16403807, PMID:16515586, PMID:16518693, PMID:16528604, PMID:16683254, PMID:17148771, PMID:17305420, PMID:17308087, PMID:17453335, PMID:17574969, PMID:17924331, PMID:18006916, PMID:18159056, PMID:18489799, PMID:18680205, PMID:18763032, PMID:18783588, PMID:18821011, PMID:18824701, PMID:19016756, PMID:19200354, PMID:19543972, PMID:19563646, PMID:19594371, PMID:19638463, PMID:19770520, PMID:19949876, PMID:19996028, PMID:20103620, PMID:20104584, PMID:20180014, PMID:20345474, PMID:20373018, PMID:20378548, PMID:20507347, PMID:20516115, PMID:20569256, PMID:20614009, PMID:20683152, PMID:21147198, PMID:21232165, PMID:21324516, PMID:21356067, PMID:21394826, PMID:21447777, PMID:21473589, PMID:21503673, PMID:21520273, PMID:21702907, PMID:21922593, PMID:21965345, PMID:21989927, PMID:21990134, PMID:21990165, PMID:22010008, PMID:22172724, PMID:22434525, PMID:22476429, PMID:22652532, PMID:22713736, PMID:22798144, PMID:22843421, PMID:22889855, PMID:23161852, PMID:23199084, PMID:23269703, PMID:23469205, PMID:23536787, PMID:23580280, PMID:23683081, PMID:23704879, PMID:23725378, PMID:23767878, PMID:23867111, PMID:24010542, PMID:24033266, PMID:24055113, PMID:24131973, PMID:24240112, PMID:24312913, PMID:24504028, PMID:24528374, PMID:24569164, PMID:24667779, PMID:24728189, PMID:24772314, PMID:24884479, PMID:25085752, PMID:25330149, PMID:25400221, PMID:25428789, PMID:25452441, PMID:25472942, PMID:25525159, PMID:25637381, PMID:25682074, PMID:25741868, PMID:25748678, PMID:25782689, PMID:25880076, PMID:25948282, PMID:26010302, PMID:26083025, PMID:26187060, PMID:26219728, PMID:26287763, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26689913, PMID:26718727, PMID:26779294, PMID:26786923, PMID:26843898, PMID:26845104, PMID:26852130, PMID:26913838, PMID:27153395, PMID:27257965, PMID:27272900, PMID:27393621, PMID:27425403, PMID:27433846, PMID:27741520, PMID:27836010, PMID:27914478, PMID:27978560, PMID:28111427, PMID:28265380, PMID:28283652, PMID:28294317, PMID:28324225, PMID:28364669, PMID:28423363, PMID:28477318, PMID:28492532, PMID:28664449, PMID:28724667, PMID:28781887, PMID:28831036, PMID:29133208, PMID:29335924, PMID:29339979, PMID:29433453, PMID:29470806, PMID:29478780, PMID:29492181, PMID:29712865, PMID:29752822, PMID:29797126, PMID:29907814, PMID:29998185, PMID:30055521, PMID:30067863, PMID:30103829, PMID:30209399, PMID:30311386, PMID:30606148, PMID:30765603, PMID:31341520, PMID:31347298 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681 		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 chr13:51,790,877...51,801,379
Ensembl chr13:51,795,867...51,801,163 		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, PMID:25637381, PMID:25741868, PMID:26046366, PMID:26689913, PMID:26845104, PMID:27208205, PMID:27233470, PMID:28486781, PMID:28492532, PMID:28767289, PMID:32860008 NCBI chr 4:5,842,013...5,860,516
Ensembl chr 4:5,841,998...5,860,527 		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 5:164,943,183...164,956,255
Ensembl chr 5:164,950,917...164,956,255 		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
OMIM		 PMID:25741868, PMID:28691929 NCBI chr19:42,960,597...42,971,894
Ensembl chr19:42,964,586...42,972,101 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital hypoplastic anemia 107
            Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
            Diamond-Blackfan anemia + 62
            Fanconi anemia + 43
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          bone marrow disease 473
            Bone Marrow Failure Disorders 163
              aplastic anemia 151
                congenital hypoplastic anemia 107
                  Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
                  Diamond-Blackfan anemia + 62
                  Fanconi anemia + 43
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.