Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
0.100 GeneticVariation disease CLINVAR Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. 21931702 2011
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
0.100 GeneticVariation disease CLINVAR Functional analysis of the pseudoknot structure in human telomerase RNA. 15849264 2005