ARHGAP32, Rho GTPase activating protein 32, 9743

N. diseases: 11; N. variants: 2
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE Our results suggest that PX-RICS-mediated GABA<sub>A</sub>R trafficking is a key target for GABAergic plasticity and its dysfunction leads to atypical emotional processing underlying autism. 30045817 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 Biomarker disease BEFREE The findings from three additional patients with autistic features and "atypical" distal 11q deletions led to the identification of an autism "critical region" in distal 11q containing four annotated genes including ARHGAP32 (also known as RICS), a gene encoding rho GTPase activating protein. 25058499 2015