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: rs373740199
rs373740199
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 Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 28930861 2017
dbSNP: rs373740199
rs373740199
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: rs373740199
rs373740199
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 Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385 2016
dbSNP: rs373740199
rs373740199
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: rs373740199
rs373740199
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		T 0.700 GeneticVariation CLINVAR Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013