DisGeNET - a database of gene-disease associations

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, C3554656

Variant: rs201540674 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

CausalMutation

CLINVAR

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

25047097

2015

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

GeneticVariation

CLINVAR

TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

25620558

2015

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

GeneticVariation

CLINVAR

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

25047097

2015

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

GeneticVariation

CLINVAR

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

26025130

2015

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

CausalMutation

CLINVAR

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

26025130

2015

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

CausalMutation

CLINVAR

TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.

25620558

2015

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

CausalMutation

CLINVAR

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

25099625

2014

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

GeneticVariation

CLINVAR

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

25099625

2014

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

CausalMutation

CLINVAR

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

23453664

2013

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

GeneticVariation

CLINVAR

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

23453664

2013

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

CausalMutation

CLINVAR

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

24009516

2013

dbSNP:

rs201540674

TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B

0.700

GeneticVariation

CLINVAR

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

24009516

2013