Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 strong 0.978 35 60 1991 2020
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		FA complementation group C 0.507 0.808 2.8E-13
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 strong 1.000 20 30 1992 2019
Entrez Id: 2189
Gene Symbol: FANCG
FANCG 		FA complementation group G 0.556 0.769 2.5E-14
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 strong 0.935 9 15 1998 2017
Entrez Id: 55120
Gene Symbol: FANCL
FANCL 		FA complementation group L 0.551 0.731 5.9E-23
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 None 1.000 7 10 2003 2020
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 None 0.941 6 1 2005 2019
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 strong 0.972 4 5 1998 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 strong 0.957 3 1 2005 2019
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.700 strong 1.000 2 7 2009 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.500 strong 0.970 12 1 1998 2019
Entrez Id: 2188
Gene Symbol: FANCF
FANCF 		FA complementation group F 0.535 0.731 0.46
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.500 strong 1.000 1 3 2000 2019
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.500 strong 1.000 1 8 2001 2019
Entrez Id: 2187
Gene Symbol: FANCB
FANCB 		FA complementation group B 0.468 0.769 1.00
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.480 strong 1.000 0 1 2002 2019
Entrez Id: 92822
Gene Symbol: ZNF276
ZNF276 		zinc finger protein 276 0.861 0.192 7.9E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.110 None 1.000 10 6 1997 2018
Entrez Id: 2620
Gene Symbol: GAS2
GAS2 		growth arrest specific 2 0.792 0.269 8.0E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.100 None 1.000 1 2 2004 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease 0.100 None 0 5