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: 7516
Gene Symbol: XRCC2
XRCC2
X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.540 strong 1.000 2 0 2012 2019
Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2
mitotic arrest deficient 2 like 2 0.547 0.731 8.2E-02
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.510 strong 1.000 1 0 2016 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.600 strong 0.917 1 0 2007 2018
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
ubiquitin conjugating enzyme E2 T 0.550 0.731 1.1E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.590 strong 1.000 1 0 2006 2019
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.320 None 1.000 1 0 2017 2017
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.600 moderate 1.000 1 0 2002 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease 0.600 None 1.000 1 0 2001 2020