TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Aplasia Cutis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.030 GeneticVariation disease BEFREE Mutually exclusive TERT copy number gains or promoter mutation were present in 70% of the ACC samples. 29956721 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.030 Biomarker disease BEFREE We assessed the telomerase reverse transcriptase (TERT) and N-cadherin role in the biology of ACC and their potential utility as molecular biomarkers, in different types of tumoral adrenocortical tissue. 27886397 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.030 GeneticVariation disease BEFREE The involvement of the TERT gene in ACC represents a novel mutated gene in this entity. 24803525 2014