DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: USHER SYNDROME, TYPE IIA ×

Variant: rs121912600 ×

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:

rs121912600

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

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

22135276

2012

dbSNP:

rs121912600

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

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

15241801

2004

dbSNP:

rs121912600

USH2A

CUI:	C1848634
Disease:	USHER SYNDROME, TYPE IIA

USHER SYNDROME, TYPE IIA

0.800

CausalMutation

CLINVAR

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

10729113

2000