Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.400 SusceptibilityMutation ORPHANET Genetic risk factors for melanoma. 19585149

2009
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.310 SusceptibilityMutation ORPHANET Clinical characteristics of patients with cutaneous melanoma according to variants in the melanocortin 1 receptor gene. 24238329

2014
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.310 SusceptibilityMutation ORPHANET Melanoma susceptibility genes and risk assessment. 24258989

2014
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Genetics of familial melanoma: 20 years after CDKN2A. 25431349

2015
Entrez Id: 54386
Gene Symbol: TERF2IP
TERF2IP
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Genetics of familial melanoma: 20 years after CDKN2A. 25431349

2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Genetics of familial melanoma: 20 years after CDKN2A. 25431349

2015
Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Genetics of familial melanoma: 20 years after CDKN2A. 25431349

2015
Entrez Id: 25913
Gene Symbol: POT1
POT1
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 24686846

2014
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Deletion of the MGMT gene in familial melanoma. 24801985

2014
Entrez Id: 25913
Gene Symbol: POT1
POT1
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET POT1 loss-of-function variants predispose to familial melanoma. 24686849

2014
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET TERT promoter mutations in familial and sporadic melanoma. 23348503

2013
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 SusceptibilityMutation ORPHANET Genetic risk factors for melanoma. 19585149

2009
Entrez Id: 1030
Gene Symbol: CDKN2B
CDKN2B
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 GeneticVariation ORPHANET