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: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 limited 1.000 4 0 2005 2016
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.330 moderate 1.000 6 0 2005 2018
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 moderate 1.000 6 0 2012 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.400 definitive 1.000 5 0 1998 2019
Entrez Id: 3082
Gene Symbol: HGF
HGF 		hepatocyte growth factor 0.374 0.885 1.00
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 moderate 1.000 2 0 2009 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 1.000 definitive 0.974 13 0 1982 2020
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.310 disputed 1.000 1 0 2017 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.300 disputed 1.000 1 0 2017 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.640 1.000 0 0 2006 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 0 0 2011 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.570 1.000 0 0 2006 2016
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		disease 0.700 definitive 1.000 10 0 1988 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675521
Disease: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype 0.300 definitive 1.000 10 0 1996 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C2675522
Disease: OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		phenotype 0.300 definitive 1.000 10 0 1996 2017
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		disease 0.920 definitive 1.000 6 0 2002 2018
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		disease 0.800 definitive 1.000 7 0 1991 2019
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		disease 0.300 definitive 1.000 7 0 1991 2008
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.987 13 0 2001 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 1.000 definitive 0.982 11 0 2001 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.570 disputed 0.889 1 0 2002 2017