DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: RETINITIS PIGMENTOSA 39 (disorder) ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

9624053

1998

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

10738000

2000

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

10909849

2000

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

10729113

2000

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

10738000

2000

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

10729113

2000

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

11311042

2001

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

12112664

2002

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

12525556

2003

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

15325563

2004

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

15015129

2004

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

15241801

2004

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

15325563

2004

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

15241801

2004

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Mutational spectrum in Usher syndrome type II.

15025721

2004

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

15671307

2005

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Novel mutations in MYO7A and USH2A in Usher syndrome.

15823922

2005

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

17085681

2006

Entrez Id:	7399
Gene Symbol:	USH2A

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

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Development of a genotyping microarray for Usher syndrome.

16963483

2007

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

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

17405132

2007

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Development of a genotyping microarray for Usher syndrome.

16963483

2007

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

18273898

2008

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

CausalMutation

CLINVAR

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

18641288

2008

Entrez Id:	7399
Gene Symbol:	USH2A

USH2A

CUI:	C3151138
Disease:	RETINITIS PIGMENTOSA 39 (disorder)

RETINITIS PIGMENTOSA 39 (disorder)

0.700

GeneticVariation

CLINVAR

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

18273898

2008