MMP15

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Microscopic hematuria

  0.37

• developmental disability

  0.34

• neurodegenerative disease

  0.26

• congenital heart disease

  0.23

• cholestasis

  0.23

• pathological myopia

  0.11

• urinary bladder cancer

  0.08

• urinary bladder carcinoma

  0.08

• cervical carcinoma

  0.07

• cervical cancer

  0.07

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

Protein function (UniProt)