DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Usher Syndrome, Type I ×

Variant: rs397516295 ×

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:

rs397516295

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR

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

21569298

2011

dbSNP:

rs397516295

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR

Functional analysis of splicing mutations in MYO7A and USH2A genes.

20497194

2011

dbSNP:

rs397516295

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR

Four-year follow-up of diagnostic service in USH1 patients.

21436283

2011