Gene table of PCDH15 : protocadherin related 15

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PCDH15	OMIM link	Number of associated genes	genes
PS276900	USHER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	12	WHRN, PCDH15, USH1G, PDZD7, CLRN1, MYO7A, USH1C, ADGRV1, CDH23, CIB2, USH2A, HARS
PS220290	DEAFNESS, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	60	CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
protein N-terminus binding	GO:0047485	5.11
ion binding	GO:0043167	1.36
macromolecular complex binding	GO:0044877	2.61
calcium ion binding	GO:0005509	3.17
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
metal ion binding	GO:0046872	1.41
binding	GO:0005488	0.18