Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4 		Q13426 X-ray repair cross complementing 4 6 0.528 0.769 8.3E-07 0.440 strong 0.750 1 1 2014 2016
Entrez Id: 25886
Gene Symbol: POC1A
POC1A 		Q8NBT0 POC1 centriolar protein A 3 0.650 0.500 3.3E-06 0.440 strong 0.800 0 1 2012 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.150 None 1.000 0 1 2012 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.110 None 1.000 1 1 2014 2014
Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT 		Q9P021 CXXC repeat containing interactor of PDZ3 domain 3 0.716 0.308 9.8E-04 0.110 None 1.000 0 2 2016 2016
Entrez Id: 3981
Gene Symbol: LIG4
LIG4 		P49917 DNA ligase 4 9 0.478 0.846 4.2E-06 0.100 None 1.000 2 2 2001 2014
Entrez Id: 1763
Gene Symbol: DNA2
DNA2 		P51530 DNA replication helicase/nuclease 2 4 0.626 0.731 1.3E-18 0.100 None 0 1
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 69 0.547 0.731 6.3E-06 0.100 None 0 2
Entrez Id: 545
Gene Symbol: ATR
ATR 		Q13535 ATR serine/threonine kinase Kinase 6 0.456 0.923 3.5E-09 0.100 None 0 2