DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL RECESSIVE 2, C1838701

Variant: rs111033215 ×

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:

rs111033215

MYO7A

0.700

GeneticVariation

CLINVAR

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

27460420

2016

dbSNP:

rs111033215

MYO7A

0.700

GeneticVariation

CLINVAR

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

22135276

2012

dbSNP:

rs111033215

MYO7A

0.700

GeneticVariation

CLINVAR

Retinal disease course in Usher syndrome 1B due to MYO7A mutations.

21873662

2011

dbSNP:

rs111033215

MYO7A

0.700

GeneticVariation

CLINVAR

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

21569298

2011

dbSNP:

rs111033215

MYO7A

0.700

GeneticVariation

CLINVAR

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

20844544

2010