DisGeNET - a database of gene-disease associations

ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, C3541517

Variant: rs121908116 ×

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:

rs121908116

EDARADD

0.800

GeneticVariation

UNIPROT

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

20979233

2011

dbSNP:

rs121908116

EDARADD

0.800

GeneticVariation

UNIPROT

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

17354266

2007

dbSNP:

rs121908116

EDARADD

0.800

CausalMutation

CLINVAR