DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Usher Syndrome, Type I ×

Variant: rs755934966 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs755934966

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

GeneticVariation

CLINVAR

Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

27729122

2016

dbSNP:

rs755934966

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

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:

rs755934966

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

GeneticVariation

CLINVAR

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

27610647

2016

dbSNP:

rs755934966

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

GeneticVariation

CLINVAR

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

24618850

2014

dbSNP:

rs755934966

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

GeneticVariation

CLINVAR

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

19074810

2009

dbSNP:

rs755934966

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR