DisGeNET - a database of gene-disease associations

Christ-Siemens-Touraine syndrome, C0162359

Variant: rs879255551 ×

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:

rs879255551

EDA

0.700

GeneticVariation

CLINVAR

Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

27144394

2016

dbSNP:

rs879255551

EDA

0.700

GeneticVariation

CLINVAR

Novel missense mutation in the EDA gene in a family affected by oligodontia.

26753551

2016

dbSNP:

rs879255551

EDA

0.700

GeneticVariation

CLINVAR

Oligodontia and curly hair occur with ectodysplasin-a mutations.

24487376

2014

dbSNP:

rs879255551

EDA

0.700

GeneticVariation

CLINVAR

EDA gene mutations underlie non-syndromic oligodontia.

19278982

2009