Gene table of C2CD3 : C2 calcium dependent domain containing 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with C2CD3	OMIM link	Number of associated genes	genes
615948	OROFACIODIGITAL SYNDROME XIV	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	C2CD3

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

REACTOME pathway	REACTOME ID	REACTOME IC
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Assembly of the primary cilium	R-HSA-5617833	5.44

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46