Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.640 Biomarker CLINGEN

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.570 Biomarker CLINGEN

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.550 Biomarker CLINGEN

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.550 Biomarker CLINGEN

Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.540 Biomarker CLINGEN

Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN

Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.350 Biomarker CLINGEN

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.330 Biomarker CLINGEN

Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN

Entrez Id: 1111
Gene Symbol: CHEK1
CHEK1
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker CLINGEN

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.310 Biomarker CLINGEN

Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 Biomarker CLINGEN

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 Biomarker CLINGEN

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.310 Biomarker CLINGEN

Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.310 Biomarker CLINGEN

Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.300 Biomarker CLINGEN

Entrez Id: 7112
Gene Symbol: TMPO
TMPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.300 Biomarker CLINGEN

Entrez Id: 783
Gene Symbol: CACNB2
CACNB2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.300 Biomarker CLINGEN

Entrez Id: 1495
Gene Symbol: CTNNA1
CTNNA1
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker CLINGEN

Entrez Id: 5922
Gene Symbol: RASA2
RASA2
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 6655
Gene Symbol: SOS2
SOS2
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 5921
Gene Symbol: RASA1
RASA1
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 22808
Gene Symbol: MRAS
MRAS
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN

Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.300 Biomarker CLINGEN