Source: ORPHANET

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 0.567 0.621 4.3E-68
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 0.955 0 0 1995 2018
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.701 0.414 2.8E-35
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.500 1.000 0 0 2007 2017
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.534 0.724 2.1E-30
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 0.952 0 0 1998 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.400 0.951 0 0 1998 2018
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
FA complementation group L 0.642 0.586 8.1E-23
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 1.000 0 0 2003 2018
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
SLX4 structure-specific endonuclease subunit 0.672 0.517 2.3E-20
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 1.000 0 0 2011 2017
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.569 0.552 7.3E-20
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.500 1.000 0 0 2007 2018
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.586 0.552 4.8E-17
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.600 0.944 0 0 2005 2016
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.672 0.414 6.3E-15
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 0.952 0 0 2005 2017
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.614 0.517 1.1E-13
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.600 1.000 0 0 2010 2016
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
FA complementation group G 0.648 0.483 2.1E-13
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 0.926 0 0 1993 2017
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.569 0.655 2.6E-13
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.700 0.955 0 0 1993 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.503 0.724 3.8E-12
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.390 1.000 0 0 2008 2016
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.762 0.414 4.2E-10
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.310 1.000 0 0 2017 2017
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
X-ray repair cross complementing 2 0.609 0.586 4.2E-07
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.320 1.000 0 0 2012 2012
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
FA complementation group E 0.636 0.586 8.8E-06
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.400 1.000 0 0 1997 2014
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
ubiquitin conjugating enzyme E2 T 0.681 0.448 1.2E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.350 1.000 0 0 2006 2016
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.517 0.724 3.3E-02
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.400 1.000 0 0 2002 2018
Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2
mitotic arrest deficient 2 like 2 0.690 0.517 8.3E-02
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.300 0 0
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
FA complementation group F 0.627 0.552 0.46
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.500 0.889 0 0 2000 2017
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.520 0.586 1.00
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.450 1.000 0 0 2002 2017