FBLN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Limb disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• VACTERL-like phenotypes

Disease associations (Open Targets)

• synpolydactyly type 2

  0.45

• Syndactyly type 2

  0.43

• FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

  0.38

• gastroesophageal reflux disease

  0.31

• adolescent idiopathic scoliosis

  0.30

• multiple sclerosis

  0.28

• alcohol drinking

  0.27

• benign prostatic hyperplasia

  0.24

• urolithiasis

  0.24

• metabolic disease

  0.22

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

Protein function (UniProt)