Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
0.340 GeneticVariation disease BEFREE Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis. 17392301 2007
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
0.340 Biomarker disease BEFREE Haploinsufficiency for TERC or TERT leads to progressive telomere shortening and autosomal dominant dyskeratosis congenita (DC). 17875000 2007
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
0.340 GeneticVariation disease BEFREE Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that telomerase function is defective and that this is associated with short telomeres. 17640862 2007
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
0.340 Biomarker disease BEFREE Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 16247010 2005
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
0.340 Biomarker disease CTD_human