DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Usher Syndrome, Type I ×

Variant: rs797044516 ×

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:

rs797044516

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

GeneticVariation

CLINVAR

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

27957503

2016

dbSNP:

rs797044516

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:

rs797044516

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

GeneticVariation

CLINVAR

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

25404053

2014