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: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.900 None 0.947 1 36 1994 2020
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.900 None 1.000 1 4 1999 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 0.903 8 3 1991 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 0.984 6 12 1999 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 1.000 3 21 1997 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 0.965 1 67 1992 2020
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 1.000 0 3 1994 2019
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 0.951 0 1 1989 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 0.963 0 170 1991 2020
Entrez Id: 4978
Gene Symbol: OPCML
OPCML
opioid binding protein/cell adhesion molecule like 0.606 0.654 0.23
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.630 None 1.000 0 1 2003 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.500 None 0.958 9 3 2002 2019
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.500 None 0.969 0 6 2010 2020
Entrez Id: 5892
Gene Symbol: RAD51D
RAD51D
RAD51 paralog D 0.674 0.385 1.1E-09
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.500 None 0.857 0 4 2011 2019
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.490 None 0.974 33 44 2005 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1
cadherin 1 0.401 0.808 0.15
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.480 None 1.000 0 2 1994 2017
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.460 None 1.000 0 2 2003 2019
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.450 None 1.000 0 5 2002 2017
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.440 None 1.000 0 1 2006 2019
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2
RAS related 2 0.656 0.500 0.97
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.400 None 0 1
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2
X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.200 None 0.800 0 1 2005 2016
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.200 None 0.667 0 8 2008 2019
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
checkpoint kinase 2 0.460 0.808 1.2E-24
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.200 None 0.769 0 2 2002 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1
BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.200 None 0.875 0 1 1998 2019
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.170 None 0.857 0 5 1999 2019
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1
checkpoint kinase 1 0.492 0.808 3.1E-08
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.160 None 1.000 0 3 2012 2017