TMEM165

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Amelogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• TMEM165-congenital disorder of glycosylation

  0.79

• congenital disorder of glycosylation

  0.37

• hypothyroidism

  0.34

• placenta praevia

  0.28

• hypertensive disorder

  0.16

• essential hypertension

  0.15

• osteoarthritis, knee

  0.14

• Hirschsprung disease

  0.11

• Aganglionic megacolon

  0.11

• hepatocellular carcinoma

  0.09

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

Protein function (UniProt)