Disease: Dyskeratosis Congenita ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
0.700 GeneticVariation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
0.700 CausalMutation CLINVAR