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ARHGEF10

Chr 8p23.3

Rho guanine nucleotide exchange factor 10

Aliases:
KIAA0294, Gef10
MANE:
ENST00000349830.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • autosomal dominant slowed nerve conduction velocity

    0.52
  • Charcot-Marie-Tooth disease

    0.31
  • alcohol drinking

    0.28
  • stroke disorder

    0.27
  • response to polyunsaturated fatty acid supplementation

    0.26
  • dementia

    0.24
  • atrial septal defect

    0.24
  • myeloid leukemia

    0.22
  • non-small cell lung carcinoma

    0.21
  • small cell lung carcinoma

    0.21

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

Protein function (UniProt)

Rho guanine nucleotide exchange factor 10

May play a role in developmental myelination of peripheral nerves

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.