KIAA1217

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• VACTERL-like phenotypes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hypothyroidism

  0.43

• smoking initiation

  0.39

• lobe attachment

  0.33

• Peyronie disease

  0.32

• response to antipsychotic drug

  0.32

• response to diuretic

  0.31

• preeclampsia

  0.31

• mathematical ability

  0.31

• brain injury

  0.30

• fungal infectious disease

  0.30

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

Protein function (UniProt)