TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554574
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 		0.500 Biomarker phenotype GENOMICS_ENGLAND Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 18042801 2008
CUI: C3554574
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 		0.500 Biomarker phenotype GENOMICS_ENGLAND Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 15814878 2005
CUI: C3554574
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 		0.500 Biomarker phenotype CTD_human