MYBPC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Congenital myopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• lethal congenital contracture syndrome 4

  0.69

• Disorder of bilirubin metabolism and excretion

  0.67

• digitotalar dysmorphism

  0.66

• lethal congenital contracture syndrome

  0.62

• Lethal congenital contracture syndrome type 3

  0.62

• myopathy, congenital, with tremor

  0.60

• distal arthrogryposis

  0.44

• hereditary disease

  0.42

• MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

  0.40

• cervical carcinoma

  0.35

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

Protein function (UniProt)

Diseases associated with MYBPC1

Curated MONDO disease pages that list MYBPC1 among their top associated genes.

• cervical carcinomaRare