TYMP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal neuromuscular disorders

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 1

  0.81

• mitochondrial neurogastrointestinal encephalomyopathy

  0.76

• colorectal cancer

  0.56

• hereditary disease

  0.47

• colorectal adenocarcinoma

  0.40

• colorectal neoplasm

  0.38

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• Leukoencephalopathy

  0.37

• gastric adenocarcinoma

  0.37

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

Protein function (UniProt)