DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Usher Syndrome, Type I ×

Variant: rs1555090171 ×

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:

rs1555090171

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

23770805

2013

dbSNP:

rs1555090171

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR

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

22135276

2012

dbSNP:

rs1555090171

MYO7A

CUI:	C1568247
Disease:	Usher Syndrome, Type I

Usher Syndrome, Type I

0.700

CausalMutation

CLINVAR

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

15660226

2005