MLPH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Vici Syndrome and other autophagy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Albinism or congenital nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Griscelli syndrome type 3

  0.68

• Griscelli disease type 3

  0.52

• Griscelli disease

  0.52

• prostate carcinoma

  0.49

• prostate cancer

  0.39

• Griscelli syndrome

  0.37

• lysosomal storage disease

  0.37

• multiple sclerosis

  0.37

• neurodegenerative disease

  0.37

• Alzheimer disease

  0.37

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

Protein function (UniProt)