Gene table of MYBPC1 : myosin binding protein C, slow type

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MYBPC1	OMIM link	Number of associated genes	genes
PS253310	LETHAL CONGENITAL CONTRACTURE SYNDROME	ClinVar, OMIM	link to OMIM	9	MYBPC1, ZBTB42, ERBB3, GLE1, ADGRG6, CNTNAP1, DNM2, PIP5K1C, ADCY6
614335	ARTHROGRYPOSIS, DISTAL, TYPE 1B	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYBPC1

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
Muscle contraction	R-HSA-397014	6.96
Striated Muscle Contraction	R-HSA-390522	7.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
titin binding	GO:0031432	7.25
cytoskeletal protein binding	GO:0008092	3.02
structural molecule activity	GO:0005198	3.1
actin binding	GO:0003779	3.74
structural constituent of muscle	GO:0008307	6.02
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46