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: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 387
Gene Symbol: RHOA
RHOA
ras homolog family member A 0.502 0.808 0.60
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.140 None 1.000 1 3 2004 2016
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.150 None 1.000 1 2 1997 2016
Entrez Id: 580
Gene Symbol: BARD1
BARD1
BRCA1 associated RING domain 1 0.597 0.538 1.4E-24
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.450 None 1.000 0 1 2004 2008
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 0 5 2006 2020
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.450 None 1.000 0 1 2003 2008
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 None 0 2
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.974 0 2 1996 2018