DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: USHER SYNDROME, TYPE IA, FORMERLY ×

Gene: PCDH15 ×

Results per page

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:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli.

16260500

2005

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision.

15634702

2005

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).

15928608

2005

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15.

12782354

2003

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.

11138007

2001

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

11398101

2001

Entrez Id:	65217
Gene Symbol:	PCDH15

PCDH15

CUI:	C1848639
Disease:	USHER SYNDROME, TYPE IA, FORMERLY

USHER SYNDROME, TYPE IA, FORMERLY

0.300

Biomarker

CLINGEN

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

11487575

2001