DisGeNET - a database of gene-disease associations

Deafness, Congenital, and Onychodystrophy, Autosomal Dominant, C2675730

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:

rs794729667

rs794729667

ATP6V1B2

0.710

GeneticVariation

BEFREE

We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder.

2019

dbSNP:

rs794729667

rs794729667

ATP6V1B2

T

0.710

CausalMutation

CLINVAR