Gene table of MYOT : myotilin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MYOT	OMIM link	Number of associated genes	genes
PS601419	MYOFIBRILLAR MYOPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	CRYAB, FLNC, DES, MYOT, LDB3, DNAJB6, BAG3
PS159000	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	HNRNPDL, TNPO3, CAV3, LMNA, MYOT, DNAJB6

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
alpha-actinin binding	GO:0051393	6.6
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
actinin binding	GO:0042805	6.3