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: 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
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
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
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
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
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
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
Colorectal cancer, hereditary nonpolyposis, type 1
disease 0.300 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
muscle RAS oncogene homolog 0.590 0.731 0.92
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 0.300 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
muscle RAS oncogene homolog 0.590 0.731 0.92
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 0.300 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
muscle RAS oncogene homolog 0.590 0.731 0.92
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.300 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
muscle RAS oncogene homolog 0.590 0.731 0.92
Noonan syndrome-like disorder with loose anagen hair
disease 0.300 0 0
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
muscle RAS oncogene homolog 0.590 0.731 0.92
Noonan-Like Syndrome With Loose Anagen Hair
disease 0.300 0 0
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
zinc finger protein 81 0.705 0.385 0.55
Mental Retardation, X-Linked Nonsyndromic
disease 0.300 disputed 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
Noonan syndrome-like disorder with loose anagen hair
disease 0.300 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
Noonan-Like Syndrome With Loose Anagen Hair
disease 0.300 0 0
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
epithelial cell adhesion molecule 0.451 0.885 1.3E-07
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
Noonan syndrome-like disorder with loose anagen hair
disease 0.300 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
Noonan-Like Syndrome With Loose Anagen Hair
disease 0.300 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease 0.300 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 0.300 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 0.300 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
disease 0.300 0 0