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: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 24009516 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 23591994 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068 2013
dbSNP: rs1470145133
rs1470145133
Entrez Id: 51750;100533107
Gene Symbol: RTEL1;RTEL1-TNFRSF6B
RTEL1;RTEL1-TNFRSF6B
CUI: C3554656
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 GeneticVariation UNIPROT Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892 2013