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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:Fanconi anemia
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Accession:DOID:13636 term browser browse the term
Definition:A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)
Synonyms:exact_synonym: Fanconi Anemias;   Fanconi Hypoplastic Anemia;   Fanconi Pancytopenia;   Fanconi Panmyelopathy;   Fanconi anaemia;   Fanconi's anaemia;   Fanconi's anemia
 primary_id: MESH:D005199
 xref: GARD:6425;   ICD10CM:D61.09;   NCI:C62505;   OMIM:PS227650;   ORDO:84
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,922,338...162,971,414
Ensembl chr  X:162,922,328...162,971,416 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Ap1s2 adaptor-related protein complex 1, sigma 2 subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662 		JBrowse link
G Asb11 ankyrin repeat and SOCS box-containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,219,976...163,242,166
Ensembl chr  X:163,219,990...163,242,166 		JBrowse link
G Asb9 ankyrin repeat and SOCS box-containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,280,899...163,322,748
Ensembl chr  X:163,289,323...163,322,748 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,975,838...163,041,189
Ensembl chr  X:162,975,838...163,041,189 		JBrowse link
G Brca2 breast cancer 2, early onset susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia		 ClinVar
RGD		 PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 More... RGD:734658 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Car5b carbonic anhydrase 5b, mitochondrial ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,759,818...162,811,006
Ensembl chr  X:162,759,818...162,810,993 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,873,183...162,901,855
Ensembl chr  X:162,871,826...162,901,856 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,231,744...124,245,535
Ensembl chr 8:124,231,457...124,242,202 		JBrowse link
G Def8 differentially expressed in FDCP 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,169,725...124,190,009
Ensembl chr 8:124,150,266...124,190,009 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A disease_progression ISO DNA:missense mutations, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple		 ClinVar
CTD
RGD		 PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:09371798 More... RGD:11344899, RGD:11344919, RGD:11344914 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More... NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, complementation group C onset ISO DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)		 ClinVar
CTD
RGD		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907, RGD:11344914 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 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
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 More... RGD:11344904, RGD:1601137 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Fance Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11001585 PMID:17924555 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		JBrowse link
G Fancf Fanconi anemia, complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar
RGD		 PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... RGD:11344925 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 CTD
ClinVar		 PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fkbp3 FK506 binding protein 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,109,206...65,120,712
Ensembl chr12:65,109,198...65,120,781 		JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856 		JBrowse link
G Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,518,107...64,521,672
Ensembl chr12:64,518,104...64,521,464 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,245,630...124,263,394
Ensembl chr 8:124,245,573...124,263,389 		JBrowse link
G Gm527 predicted gene 527 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,964,685...64,971,365
Ensembl chr12:64,964,680...64,971,366 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Klhl28 kelch-like 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:64,985,603...65,012,365
Ensembl chr12:64,985,607...65,012,308 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,719,165...163,763,501
Ensembl chr  X:163,719,165...163,763,371 		JBrowse link
G Mx1 MX dynamin-like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr16:97,248,235...97,264,106
Ensembl chr16:97,248,235...97,264,107 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,202,814...163,216,912
Ensembl chr  X:163,202,783...163,216,912 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,052,427...163,156,009
Ensembl chr  X:163,052,367...163,156,007 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO RGD PMID:21542827 RGD:6482802 NCBI chr10:61,133,530...61,140,463
Ensembl chr10:61,133,612...61,140,459 		JBrowse link
G Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,083,094...65,110,160
Ensembl chr12:65,083,107...65,110,160 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia		 CTD
ClinVar		 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia		 CTD
ClinVar		 PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chr 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254 		JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 IAGP MouseDO NCBI chr 4:98,812,047...98,823,780
Ensembl chr 4:98,812,047...98,823,780 		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:26740942 More... NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:163,156,282...163,185,643
Ensembl chr  X:163,156,374...163,185,646 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr  X:162,719,268...162,741,662
Ensembl chr  X:162,718,439...162,741,657 		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:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551 		JBrowse link
G Fanca Fanconi anemia, complementation group A IAGP
ISO		 OMIM:227650
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A		 MouseDO
ClinVar
OMIM		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 More... NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, 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 More... NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389 		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 Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B		 OMIM
CTD
ClinVar		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		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:7689011 PMID:08103176 PMID:08128956 More... NCBI chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO
IAGP		 ClinVar Annotator: match by term: Fanconi anemia complementation group C
CTD Direct Evidence: marker/mechanism
OMIM:227645		 OMIM
ClinVar
CTD
MouseDO		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		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 breast cancer 2, early onset IAGP
ISO		 OMIM:605724
ClinVar Annotator: match by term: Fanconi anemia complementation group D1
CTD Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		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 Fanconi anemia, complementation group D2 ISO
IAGP		 ClinVar Annotator: match by term: Fanconi anemia complementation group D2
CTD Direct Evidence: marker/mechanism
OMIM:227646		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:23285130 More... NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		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 Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia complementation group E
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		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 Fanconi anemia, complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia complementation group F
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		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 Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		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:26740942 More... NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507 		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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... RGD:11344924 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		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 DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by term: Fanconi anemia complementation group J
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... RGD:11251781 NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		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 Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group L ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chr11:26,421,398...26,544,006
Ensembl chr11:26,421,322...26,543,999 		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 Fanconi anemia, 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 More... NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group N		 CTD
OMIM
ClinVar		 PMID:100849 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		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 family member 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,507,225...87,550,715
Ensembl chr11:87,507,990...87,550,368 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,482,769...87,507,128
Ensembl chr11:87,482,988...87,507,128 		JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition		 CTD
OMIM
ClinVar		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,457,515...87,481,365
Ensembl chr11:87,457,479...87,481,365 		JBrowse link
G Tex14 testis expressed gene 14 intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chr11:87,295,839...87,446,649
Ensembl chr11:87,295,891...87,446,649 		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 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group P
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More... NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		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 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group Q
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926 		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 breast cancer 1, early onset ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S ClinVar
OMIM		 PMID:1514655 PMID:2618727 PMID:3347199 PMID:7493024 PMID:7545954 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr 1:134,911,038...135,033,112
Ensembl chr 1:134,911,039...135,033,014 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group T		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 NCBI chr 1:134,890,303...134,901,918
Ensembl chr 1:134,890,303...134,901,900 		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 complementing defective repair in Chinese hamster cells 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group U
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chr 5:25,894,812...25,910,795
Ensembl chr 5:25,894,810...25,910,823 		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 MAD2 mitotic arrest deficient-like 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group V
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:27500492 NCBI chr 4:148,214,615...148,230,161
Ensembl chr 4:148,214,841...148,230,156 		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 OMIM
ClinVar		 PMID:25741868 PMID:26474068 PMID:28492532 PMID:28691929 PMID:33044890 NCBI chr 8:111,997,576...112,026,854
Ensembl chr 8:111,997,576...112,026,854 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    physical disorder 5015
      congenital hypoplastic anemia 239
        Fanconi anemia 83
          Fanconi Anemia Complementation Group M 1
          Fanconi Anemia Complementation Group S 1
          Fanconi Anemia Complementation Group W 1
          Fanconi anemia complementation group A + 23
          Fanconi anemia complementation group B 1
          Fanconi anemia complementation group C 3
          Fanconi anemia complementation group D1 1
          Fanconi anemia complementation group D2 2
          Fanconi anemia complementation group E 1
          Fanconi anemia complementation group F 1
          Fanconi anemia complementation group G 2
          Fanconi anemia complementation group I 2
          Fanconi anemia complementation group J 1
          Fanconi anemia complementation group L 2
          Fanconi anemia complementation group N 1
          Fanconi anemia complementation group O 6
          Fanconi anemia complementation group P 1
          Fanconi anemia complementation group Q 1
          Fanconi anemia complementation group R 1
          Fanconi anemia complementation group T 2
          Fanconi anemia complementation group U 1
          Fanconi anemia complementation group V 1
          Milner Khallouf Gibson Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      Hemic and Lymphatic Diseases 3778
        hematopoietic system disease 3275
          anemia 794
            normocytic anemia 691
              aplastic anemia 286
                congenital hypoplastic anemia 239
                  Fanconi anemia 83
                    Fanconi Anemia Complementation Group M 1
                    Fanconi Anemia Complementation Group S 1
                    Fanconi Anemia Complementation Group W 1
                    Fanconi anemia complementation group A + 23
                    Fanconi anemia complementation group B 1
                    Fanconi anemia complementation group C 3
                    Fanconi anemia complementation group D1 1
                    Fanconi anemia complementation group D2 2
                    Fanconi anemia complementation group E 1
                    Fanconi anemia complementation group F 1
                    Fanconi anemia complementation group G 2
                    Fanconi anemia complementation group I 2
                    Fanconi anemia complementation group J 1
                    Fanconi anemia complementation group L 2
                    Fanconi anemia complementation group N 1
                    Fanconi anemia complementation group O 6
                    Fanconi anemia complementation group P 1
                    Fanconi anemia complementation group Q 1
                    Fanconi anemia complementation group R 1
                    Fanconi anemia complementation group T 2
                    Fanconi anemia complementation group U 1
                    Fanconi anemia complementation group V 1
                    Milner Khallouf Gibson Syndrome 0
paths to the root