DisGeNET - a database of gene-disease associations

USH2A, usherin, 7399

N. diseases: 119; N. variants: 394

Disease: RETINITIS PIGMENTOSA 39 (disorder) ×

Variant: rs756623509 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs756623509

Entrez Id:	7399;105372918
Gene Symbol:	USH2A;LOC105372918

USH2A;LOC105372918

CUI:	C3151138
Disease:

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs756623509

Entrez Id:	7399;105372918
Gene Symbol:	USH2A;LOC105372918

USH2A;LOC105372918

CUI:	C3151138
Disease:

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

24944099

2014

dbSNP:

rs756623509

Entrez Id:	7399;105372918
Gene Symbol:	USH2A;LOC105372918

USH2A;LOC105372918

CUI:	C3151138
Disease:

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Novel mutations in MYO7A and USH2A in Usher syndrome.

15823922

2005