DisGeNET - a database of gene-disease associations

RTEL1, regulator of telomere elongation helicase 1, 51750

N. diseases: 321; N. variants: 82

Disease: Dyskeratosis Congenita ×

Variant: rs398123017 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398123017

Entrez Id:	51750;100533107
Gene Symbol:	RTEL1;RTEL1-TNFRSF6B

RTEL1;RTEL1-TNFRSF6B

CUI:	C0265965
Disease:

Dyskeratosis Congenita

0.700

CausalMutation

CLINVAR

Rare variants in RTEL1 are associated with familial interstitial pneumonia.

25607374

2015

dbSNP:

rs398123017

Entrez Id:	51750;100533107
Gene Symbol:	RTEL1;RTEL1-TNFRSF6B

RTEL1;RTEL1-TNFRSF6B

CUI:	C0265965
Disease:

Dyskeratosis Congenita

0.700

CausalMutation

CLINVAR

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

23453664

2013

dbSNP:

rs398123017

Entrez Id:	51750;100533107
Gene Symbol:	RTEL1;RTEL1-TNFRSF6B

RTEL1;RTEL1-TNFRSF6B

CUI:	C0265965
Disease:

Dyskeratosis Congenita

0.700

CausalMutation

CLINVAR

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

23329068

2013

dbSNP:

rs398123017

Entrez Id:	51750;100533107
Gene Symbol:	RTEL1;RTEL1-TNFRSF6B

RTEL1;RTEL1-TNFRSF6B

CUI:	C0265965
Disease:

Dyskeratosis Congenita

0.700

CausalMutation

CLINVAR

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

23959892

2013