DYSF

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive limb-girdle muscular dystrophy type 2B

  0.84

• Miyoshi muscular dystrophy 1

  0.83

• distal myopathy with anterior tibial onset

  0.77

• autosomal recessive limb-girdle muscular dystrophy

  0.72

• Miyoshi myopathy

  0.64

• neuromuscular disease caused by qualitative or quantitative defects of dysferlin

  0.60

• Joubert syndrome and related disorders

  0.54

• Abnormality of the musculature

  0.53

• Distal lower limb muscle weakness

  0.40

• limb-girdle muscular dystrophy

  0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with DYSF

Curated MONDO disease pages that list DYSF among their top associated genes.

• Miyoshi myopathyRare