TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Malignant melanoma of conjunctiva ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva 		0.010 GeneticVariation disease BEFREE Hot-spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in cutaneous and conjunctival melanoma and are exceedingly rare in uveal melanoma. 25159205 2014