Source: CLINGEN

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: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.919 8 0 1989 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.700 limited 0.941 4 0 1991 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
disease 0.700 definitive 0.947 8 0 1997 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 0 0 2006 2006
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.700 0.962 0 0 1999 2018
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
disease 0.900 definitive 7 0 2006 2015
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 0.580 1.000 0 0 2007 2016
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.350 0.724 9.0E-04
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
disease 0.300 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 1.000 definitive 0.957 6 0 1993 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 0.540 1.000 0 0 2007 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
disease 0.300 0 0
Entrez Id: 3082
Gene Symbol: HGF
HGF
hepatocyte growth factor 0.394 0.793 1.00
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 2 0 2009 2016
Entrez Id: 324
Gene Symbol: APC
APC
APC, WNT signaling pathway regulator 0.397 0.828 1.00
CUI: C0004991
Disease: Benign neoplasm of colon
Benign neoplasm of colon
disease 0.300 definitive 6 0 1993 1996
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
Hereditary Nonpolyposis Colorectal Neoplasms
group 0.300 moderate 6 0 2013 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
Hereditary non-polyposis colorectal cancer syndrome
disease 0.300 moderate 6 0 2013 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
Hereditary Nonpolyposis Colorectal Cancer
disease 0.310 moderate 1.000 6 0 2006 2017
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.500 definitive 0.923 5 0 1998 2016
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.570 limited 1.000 4 0 1998 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
disease 1.000 definitive 0.987 6 0 1990 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder)
disease 0.790 definitive 1.000 6 0 1996 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 1.000 definitive 0.985 13 0 1982 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.404 0.828 8.7E-02
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
disease 0.600 definitive 13 0 2005 2017
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.405 0.793 0.99
CUI: C0154040
Disease: Benign neoplasm of adrenal gland
Benign neoplasm of adrenal gland
disease 0.300 limited 1 0 2016 2016
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.405 0.793 0.99
Benign neoplasm of aortic body and other paraganglia
disease 0.300 limited 1 0 2016 2016
Entrez Id: 4233
Gene Symbol: MET
MET
MET proto-oncogene, receptor tyrosine kinase 0.405 0.793 0.99
CUI: C0344456
Disease: Malignant Adrenal Medulla Neoplasm
Malignant Adrenal Medulla Neoplasm
disease 0.300 limited 1 0 2016 2016