Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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