MFRP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• isolated microphthalmia 5

  0.78

• nanophthalmos 2

  0.73

• Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen

  0.64

• nanophthalmia

  0.59

• isolated microphthalmia

  0.55

• Retinal dystrophy

  0.55

• late-onset retinal degeneration

  0.52

• microphthalmia

  0.47

• eye disorder

  0.37

• gout

  0.36

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

Protein function (UniProt)