Gene table of CCDC50 : coiled-coil domain containing 50

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CCDC50	OMIM link	Number of associated genes	genes
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM	link to OMIM	33	GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2

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
enzyme binding	GO:0019899	2.27
ubiquitin protein ligase binding	GO:0031625	4.17
ubiquitin-like protein ligase binding	GO:0044389	4.15
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46