PDLIM3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

• Hypertrophic cardiomyopathy

  Unknown

Disease associations (Open Targets)

• glomerulonephritis

  0.36

• viral pneumonia

  0.29

• nephrotic syndrome

  0.29

• response to tyrosine kinase inhibitor

  0.25

• hypertrophic cardiomyopathy

  0.22

• dilated cardiomyopathy

  0.21

• Abnormality of the cardiovascular system

  0.16

• type 2 diabetes mellitus

  0.13

• familial hypertrophic cardiomyopathy

  0.11

• facial nerve disorder

  0.11

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

Protein function (UniProt)

Diseases associated with PDLIM3

Curated MONDO disease pages that list PDLIM3 among their top associated genes.

• glomerulonephritisRare