DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL RECESSIVE 2, C1838701

Variant: rs1453053718 ×

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:

rs1453053718

MYO7A

0.700

GeneticVariation

CLINVAR

FERM domain-containing unconventional myosin VIIA interacts with integrin β5 subunit and regulates αvβ5-mediated cell adhesion and migration.

24997346

2014

dbSNP:

rs1453053718

MYO7A

0.700

GeneticVariation

CLINVAR

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

23451239

2013

dbSNP:

rs1453053718

MYO7A

0.700

GeneticVariation

CLINVAR

Functional analysis of splicing mutations in MYO7A and USH2A genes.

20497194

2011

dbSNP:

rs1453053718

MYO7A

0.700

GeneticVariation

CLINVAR

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

16470552

2006