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ARHGEF9 - Cdc42 guanine nucleotide exchange factor 9
- Synonym(s) : collybistin, KIAA0424, PEM-2
- Previous symbols and names : Cdc42 guanine nucleotide exchange factor (GEF) 9
- Type : gene with protein product
- Chromosomal location : Xq11.1
- OMIM: 300429
- HGNC: 14561
- UniProtKB: O43307
- Genatlas: ARHGEF9
- Ensembl: ENSG00000131089
- IUPHAR-DB: -
- Reactome: O43307
- LOVD: ARHGEF9
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Hyperekplexia-epilepsy syndrome
ORPHA:163985 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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