Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.310 Biomarker disease CTD_human Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. 17785587 2007
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.310 GeneticVariation disease BEFREE Due to the clinical overlap with Hoyeraal-Hreidarsson syndrome, mutations in the DKC1 gene (Xq28) and the hTR gene (RNA component of telomerase on chromosome 3q) have been excluded. 12833411 2003