Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 CausalMutation CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038 2017
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 CausalMutation CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097 2015
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 CausalMutation CLINVAR Rare variants in RTEL1 are associated with familial interstitial pneumonia. 25607374 2015
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 CausalMutation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
dbSNP: rs398123017
rs398123017
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 CausalMutation CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013