Gene table of COCH : cochlin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COCH	OMIM link	Number of associated genes	genes
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	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
protein complex binding	GO:0032403	3.09
collagen binding	GO:0005518	5.58
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46