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 CausalMutation CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
0.700 CausalMutation CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
0.700 CausalMutation 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 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013