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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 5 6 1998 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 0.978 13 34 2004 2020
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha 0.588 0.577 0.98
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: 6093
Gene Symbol: ROCK1
ROCK1
Rho associated coiled-coil containing protein kinase 1 0.513 0.731 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.120 None 1.000 1 1 2005 2010
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: 23451
Gene Symbol: SF3B1
SF3B1
splicing factor 3b subunit 1 0.511 0.731 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10992
Gene Symbol: SF3B2
SF3B2
splicing factor 3b subunit 2 0.780 0.308 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.100 None 1.000 1 2 2016 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.700 None 0.984 3 84 1982 2020