DisGeNET - a database of gene-disease associations

Source: ALL

Disease: RETINITIS PIGMENTOSA 39 (disorder) ×

Variant: rs146733615 ×

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:

rs146733615

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Experience of targeted Usher exome sequencing as a clinical test.

24498627

2014

dbSNP:

rs146733615

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

20507924

2010

dbSNP:

rs146733615

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Genomic instability and proliferative activity as risk factors for distant metastases in breast cancer.

18665192

2008

dbSNP:

rs146733615

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

17405132

2007