DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: USHER SYNDROME, TYPE IIA ×

Variant: rs202175091 ×

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:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

27460420

2016

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

25252889

2015

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

25575603

2015

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

19683999

2010

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

GeneticVariation

CLINVAR

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

19737284

2009

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.

19737284

2009

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

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

dbSNP:

rs202175091

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

GeneticVariation

CLINVAR

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

17085681

2006