Gene table of DYSF : dysferlin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with DYSF	OMIM link	Number of associated genes	genes
PS254130	MIYOSHI MUSCULAR DYSTROPHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ANO5, DYSF
PS253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	24	SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC
606768	MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET	ClinVar, OMIM	link to OMIM	1	DYSF

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
phospholipid binding	GO:0005543	3.91
calcium-dependent phospholipid binding	GO:0005544	5.71
lipid binding	GO:0008289	3.26
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
metal ion binding	GO:0046872	1.41
calcium ion binding	GO:0005509	3.17