Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita
0.300 Biomarker disease CTD_human TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 18252230 2008