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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 6:26,657,507...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:28166811 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 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 chr13:109,578,294...109,624,235
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
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:28166811 PMID:28492532 PMID:28694211 PMID:28991257 PMID:30183354 PMID:30503522 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:9536098 PMID:17576681 PMID:20116044 PMID:20159986 PMID:23718193 PMID:25741868 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:25741868 PMID:25946618 PMID:26136524 PMID:27329125 PMID:28102861 PMID:28166811 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 Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 5:16,706,052...16,707,214
Ensembl chr 5:16,706,082...16,706,909
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 subunit 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
G Zfp846 zinc finger protein 846 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 8:21,601,021...21,618,389
Ensembl chr 8:21,611,319...21,617,736
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:28166811 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:9536098 PMID:17483715 PMID:17576681 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 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:27329125 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:28166811 PMID:28492532 PMID:28991257 PMID:30183354 PMID:30503522 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:28166811 PMID:28492532 PMID:28991257 PMID:30183354 PMID:30503522, 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:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 PMID:25741868 PMID:27882484 PMID:28102861 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
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
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:9536098 PMID:11050007 PMID:12093742 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15364573 PMID:15695377 PMID:16015582 PMID:17576681 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:30630526 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:29310832 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 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:08896563 PMID:9371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:9721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10431244 PMID:10521298 PMID:10807541 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12955722 PMID:14695169 PMID:15059067 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:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:19423727 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 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:25168418 PMID:25239263 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25703136 PMID:25741868 PMID:25751062 PMID:26136524 PMID:26181256 PMID:26296701 PMID:26492932 PMID:26556299 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27577878 PMID:27701467 PMID:27854218 PMID:28102861 PMID:28202063 PMID:28215707 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:30792206, 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 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 PMID:8103176 PMID:8128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8799375 PMID:8829660 PMID:08844212 PMID:8882868 PMID:9207444 PMID:9242535 PMID:9398857 PMID:09452030 PMID:9521584 PMID:9536098 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:17576681 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:29360161 PMID:29439820 PMID:29643063 PMID:29719599 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30306255 PMID:30322717 PMID:30630526 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:9536098 PMID:11239453 PMID:14667412 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:23285130 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:9536098 PMID:17576681 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:16774934 PMID:17924555 PMID:18271933 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28492532 PMID:30262796 PMID:30995915 PMID:31882575 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:9536098 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:17576681 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:28024295 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
ClinVar Annotator: match by term: Fanconi pancytopenia
DNA:mutations: :multiple
ClinVar PMID:9536098 PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:19737859 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:30076350 PMID:30303537 PMID:30773290, 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:9536098 PMID:12973351 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:26149689 PMID:26740942 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:9536098 PMID:16116422 PMID:17289582 PMID:17576681 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 Mx1 MX dynamin like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr11:37,891,150...37,916,775
Ensembl chr11:37,891,156...37,914,983
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:9536098 PMID:17576681 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:27153395 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717660 PMID:29607586 PMID:29868112 PMID:30306255 PMID:30613976 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
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:26740942 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:9536098 PMID:9721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:15059067 PMID:15523645 PMID:15643609 PMID:16084127 PMID:17576681 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 PMID:30792206 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 Annotator: match by term: Fanconi anemia, group A
ClinVar
OMIM
PMID:1792455 PMID:2339692 PMID:2472832 PMID:08896563 PMID:08896564 PMID:9371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:09721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10431244 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16084127 PMID:16116422 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 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: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:25703136 PMID:25741868 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26296701 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27577878 PMID:27701467 PMID:27854218 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:30792206 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:8799375 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:28678401 PMID:28767289 PMID:29360161 PMID:29643063 PMID:29719599 PMID:30031030 PMID:30306255 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 PMID:25741868 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 PMID:30792206 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 Annotator: match by term: Fanconi anemia, 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:17576681 PMID:17924555 PMID:19278965 PMID:20869034 PMID:21520333 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:30630526 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 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 PMID:8103176 PMID:8128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8799375 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:17576681 PMID:17909071 PMID:17924555 PMID:19278965 PMID:19622403 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21520333 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:29360161 PMID:29439820 PMID:29643063 PMID:29719599 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30306255 PMID:30630526 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: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: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:11179017 PMID:11180449 PMID:11185744 PMID:11241844 PMID:11304778 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11447276 PMID:11556836 PMID:11595708 PMID:11698567 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: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:14517958 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:15340362 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: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:17688236 PMID:17724471 PMID:17767707 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17971607 PMID:17972171 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:19654294 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:21063910 PMID:21120943 PMID:21156238 PMID:21203900 PMID:21205087 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:21709188 PMID:21719596 PMID:21769658 PMID:21789034 PMID:21913181 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:22399190 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:22863191 PMID:22874498 PMID:22875147 PMID:22913592 PMID:22921157 PMID:22921312 PMID:22923021 PMID:22962691 PMID:22970155 PMID:22977638 PMID:22995991 PMID:23071527 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:23569316 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:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25203624 PMID:25233892 PMID:25256924 PMID:25348012 PMID:25382762 PMID:25395318 PMID:25452441 PMID:25479140 PMID:25525159 PMID:25556971 PMID:25569433 PMID:25637381 PMID:25682074 PMID:25737278 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:26757435 PMID:26761715 PMID:26780556 PMID:26834852 PMID:26845104 PMID:26846091 PMID:26848529 PMID:26867194 PMID:26898890 PMID:26920070 PMID:26968956 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27257965 PMID:27376475 PMID:27383479 PMID:27393621 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:28263838 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:28616458 PMID:28640387 PMID:28664449 PMID:28678401 PMID:28724667 PMID:28726806 PMID:28767289 PMID:28807866 PMID:28814288 PMID:28831036 PMID:28843361 PMID:28915716 PMID:28973083 PMID:28975465 PMID:28993434 PMID:29021639 PMID:29084914 PMID:29126202 PMID:29192238 PMID:29215753 PMID:29240602 PMID:29288066 PMID:29321669 PMID:29339979 PMID:29346284 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29394989 PMID:29433453 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29492181 PMID:29506128 PMID:29580235 PMID:29642553 PMID:29667044 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29802286 PMID:29854292 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29988080 PMID:30055349 PMID:30093976 PMID:30199306 PMID:30207912 PMID:30212499 PMID:30254663 PMID:30286154 PMID:30287823 PMID:30350268 PMID:30400234 PMID:30472649 PMID:30555256 PMID:30606148 PMID:30611917 PMID:30702160 PMID:30825404 PMID:30883759 PMID:31112341 PMID:31131559 PMID:31131967 PMID:31143303 PMID:31294896 PMID:31409081 PMID:31422574 PMID:31825140 PMID:31843900 PMID:32295079 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:9536098 PMID:10205272 PMID:11001585 PMID:14695169 PMID:15609317 PMID:16774934 PMID:17308347 PMID:17576681 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: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 PMID:30262796 PMID:30995915 PMID:31882575 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:30076350 PMID:30303537, 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 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 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:17576681 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:22264603 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:25330149 PMID:25374583 PMID:25452441 PMID:25525159 PMID:25583461 PMID:25722345 PMID:25741868 PMID:25783483 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:27462233 PMID:27471560 PMID:27498913 PMID:27527004 PMID:27547810 PMID:27553368 PMID:27621404 PMID:27701467 PMID:27978560 PMID:27997549 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28423363 PMID:28452373 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28528518 PMID:28678401 PMID:28709830 PMID:28717660 PMID:28767289 PMID:28796317 PMID:28828701 PMID:28911102 PMID:29263802 PMID:29335925 PMID:29338689 PMID:29360161 PMID:29368626 PMID:29470806 PMID:29625052 PMID:29636988 PMID:29641532 PMID:29667044 PMID:29752822 PMID:29788478 PMID:29922827 PMID:29929473 PMID:30086788 PMID:30093976 PMID:30130155 PMID:30230034 PMID:30256826 PMID:30262796 PMID:30295334 PMID:30306255 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30414346 PMID:30441849 PMID:30651582 PMID:30728895 PMID:30833958 PMID:30982232 PMID:31159747 PMID:31206626 PMID:31214711 PMID:31265121 PMID:31341520 PMID:31366178 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31666926 PMID:31786208 PMID:31822495 PMID:31843900 PMID:31871109 PMID:31882575 PMID:32019284 PMID:32231423 PMID:32295079 PMID:32566746 PMID:33309985, 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 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:24136930 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:27433846 PMID:27573125 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27624329 PMID:27783279 PMID:27829436 PMID:27930734 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28152038 PMID:28166811 PMID:28279176 PMID:28281021 PMID:28319063 PMID:28380452 PMID:28440294 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:29431189 PMID:29522266 PMID:29667044 PMID:29753700 PMID:29802286 PMID:29909963 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30521987 PMID:30680046 PMID:30883245 PMID:30890586 PMID:30982232 PMID:30995915 PMID:31159747 PMID:31586400 PMID:31636395 PMID:31843900 PMID:31844177 PMID:32019277 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 Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:74,909,621...74,954,128
Ensembl chr10:74,910,713...74,951,065
JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:74,886,600...74,909,532
Ensembl chr10:74,886,985...74,909,533
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 PMID:15170666 PMID:17576681 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:25640679 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:28528518 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:29263802 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29458332 PMID:29470806 PMID:29522266 PMID:29566657 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29785153 PMID:29858219 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30257646 PMID:30309722 PMID:30322717 PMID:30374176 PMID:30426508 PMID:30551670 PMID:30924587 PMID:30927251 PMID:30949688 PMID:30995915 PMID:31159747 PMID:31173646 PMID:31300551 PMID:31422574 PMID:31742824 PMID:31843900 PMID:32295079 PMID:32566746 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:74,956,411...75,028,951
Ensembl chr10:74,959,285...75,028,951
JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr10:74,860,068...74,884,196
Ensembl chr10:74,861,714...74,884,196
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 chr10:74,724,070...74,849,172
Ensembl chr10:74,724,549...74,849,194
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:24763404 PMID:25288723 PMID:25326635 PMID:25741868 PMID:26201965 PMID:27153395 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:16550608 PMID:23623386 PMID:24728327 PMID:25741868 PMID:28292785 PMID:28492532 PMID:28678401 PMID:28767289 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:15908697 PMID:25741868 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 Annotator: match by term: Fanconi anemia, complementation group S
ClinVar
OMIM
PMID:7795652 PMID:7837387 PMID:7894493 PMID:8606385 PMID:8644702 PMID:8807330 PMID:8968102 PMID:9159158 PMID:9333265 PMID:9482581 PMID:9525870 PMID:9663595 PMID:9667259 PMID:10359546 PMID:10486320 PMID:10788334 PMID:10945975 PMID:11157798 PMID:11179017 PMID:11278247 PMID:11320250 PMID:11389159 PMID:11504767 PMID:11802209 PMID:12204006 PMID:12354934 PMID:12393792 PMID:12496476 PMID:12566964 PMID:12601471 PMID:12732733 PMID:12810666 PMID:12938098 PMID:14976165 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:17305420 PMID:17308087 PMID:17369502 PMID:17574969 PMID:17924331 PMID:18680205 PMID:18763032 PMID:18779604 PMID:18783588 PMID:18824701 PMID:19200354 PMID:19208665 PMID:19543972 PMID:19563646 PMID:19594371 PMID:19770520 PMID:19996028 PMID:20103620 PMID:20104584 PMID:20180014 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20683152 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21447777 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21702907 PMID:21725363 PMID:21922593 PMID:21965345 PMID:21989927 PMID:21990134 PMID:21990165 PMID:22010008 PMID:22172724 PMID:22476429 PMID:22713736 PMID:22798144 PMID:22843421 PMID:22889855 PMID:23161852 PMID:23199084 PMID:23269703 PMID:23458327 PMID:23469205 PMID:23569316 PMID:23580280 PMID:23683081 PMID:23725378 PMID:23867111 PMID:24033266 PMID:24055113 PMID:24131973 PMID:24240112 PMID:24312913 PMID:24489791 PMID:24504028 PMID:24569164 PMID:24728189 PMID:24884479 PMID:25186627 PMID:25330149 PMID:25371446 PMID:25400221 PMID:25452441 PMID:25472942 PMID:25525159 PMID:25556971 PMID:25682074 PMID:25741868 PMID:25748678 PMID:25782689 PMID:25823446 PMID:25948282 PMID:26083025 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26350514 PMID:26467025 PMID:26681312 PMID:26718727 PMID:26786923 PMID:26845104 PMID:26852130 PMID:26913838 PMID:27153395 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27741520 PMID:27836010 PMID:27978560 PMID:28265380 PMID:28283652 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28724667 PMID:28781887 PMID:28831036 PMID:29133208 PMID:29335924 PMID:29433453 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29712865 PMID:29797126 PMID:29998185 PMID:30055521 PMID:30067863 PMID:30103829 PMID:30209399 PMID:30219179 PMID:30606148 PMID:30765603 PMID:31341520 PMID:31347298 PMID:32295079 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:25741868 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:30306255 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 Annotator: match by term: Fanconi anemia, complementation group W
ClinVar
OMIM
PMID:25741868 PMID:28691929 NCBI chr19:43,477,121...43,499,068
Ensembl chr19:42,964,586...42,972,101
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      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 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          bone marrow disease 487
            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