PCDH15, protocadherin related 15, 65217

N. diseases: 94; N. variants: 122
Disease: USHER SYNDROME, TYPE IA, FORMERLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli. 16260500 2005
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision. 15634702 2005
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. 12782354 2003
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. 11138007 2001
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 11398101 2001
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker disease CLINGEN Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 11487575 2001