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: 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: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.570 1.000 0 0 2006 2016
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.550 disputed 1.000 0 0 2007 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.550 disputed 1.000 0 0 2003 2016
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.540 1.000 0 0 2007 2016
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2 		calsequestrin 2 0.691 0.385 1.4E-12
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.350 1.000 0 0 2016 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.330 1.000 0 0 2008 2012
Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1 		checkpoint kinase 1 0.492 0.808 3.1E-08
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.320 1.000 0 0 2003 2010
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.320 0.500 0 0 2009 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.310 1.000 0 0 2017 2017
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: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 0 0 2011 2011
Entrez Id: 5921
Gene Symbol: RASA1
RASA1 		RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.310 1.000 0 0 2010 2010
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		SHOC2 leucine rich repeat scaffold protein 0.593 0.769 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.310 1.000 0 0 2011 2011
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.300 0 0
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		catenin alpha 1 0.584 0.538 0.97
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 0 0
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		catenin alpha 1 0.584 0.538 0.97
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 0 0
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		catenin alpha 1 0.584 0.538 0.97
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.300 0 0
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		catenin alpha 1 0.584 0.538 0.97
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 0 0
Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1 		catenin alpha 1 0.584 0.538 0.97
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 0 0