CLDN11

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albinism or congenital nystagmus

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• White matter disorders and cerebral calcification - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic hearing loss

Disease associations (Open Targets)

• leukodystrophy, hypomyelinating, 22

  0.69

• prostate carcinoma

  0.35

• marfanoid habitus and intellectual disability

  0.12

• breast carcinoma

  0.09

• prostate cancer

  0.09

• gastric cancer

  0.09

• breast cancer

  0.09

• colorectal carcinoma

  0.09

• neoplasm

  0.09

• polycystic ovary syndrome

  0.08

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

Protein function (UniProt)