PHLDB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• glioma

  0.49

• central nervous system cancer

  0.47

• presbycusis

  0.46

• hearing loss disorder

  0.46

• osteogenesis imperfecta, type 23

  0.46

• neurodegenerative disease

  0.37

• primary biliary cholangitis

  0.33

• allergic disease

  0.33

• rheumatoid arthritis

  0.28

• liver disorder

  0.15

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

Diseases associated with PHLDB1

Curated MONDO disease pages that list PHLDB1 among their top associated genes.

• central nervous system cancerRare
• gliomaRare