PCDH15, protocadherin related 15, 65217

N. diseases: 36; N. variants: 118
Disease: Usher Syndrome, Type I ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision. 15634702 2005
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli. 16260500 2005
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). 15928608 2005
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. 12782354 2003
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. 11138007 2001
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 11487575 2001
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker disease CLINGEN Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 11398101 2001