LRMDA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albinism or congenital nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Infantile nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Ocular and oculo-cutaneous albinism

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Retinal disorders

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• oculocutaneous albinism type 7

  0.70

• type 2 diabetes mellitus

  0.47

• Abnormality of the skeletal system

  0.46

• androgenetic alopecia

  0.43

• atrial fibrillation

  0.41

• oculocutaneous albinism

  0.37

• alcohol drinking

  0.36

• adolescent idiopathic scoliosis

  0.33

• chronic obstructive pulmonary disease

  0.33

• alopecia

  0.30

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

Protein function (UniProt)

Diseases associated with LRMDA

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

• adolescent idiopathic scoliosisRare