Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 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: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 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: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 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: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. 12782354

2003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 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: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 11487575

2001
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 11398101

2001