Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
0.120 GeneticVariation disease BEFREE Mutations or disruption of ARHGEF9 due to chromosomal rearrangements have been found in three patients with various clinical presentations: nevertheless, all 3 presented with MR and 2 with epilepsy. 21626670 2011
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
0.120 GeneticVariation disease BEFREE A cohort study of ARHGEF9 nucleotide sequence identified a nonsense mutation in another male patient with severe mental retardation and epilepsy. 21633362 2011
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
0.120 Biomarker disease HPO