GAD2, glutamate decarboxylase 2, 2572

N. diseases: 173; N. variants: 7
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 AlteredExpression disease BEFREE GAD65 mRNA labeling revealed two distinct subpopulations of neurons in adult control and autism postmortem brains: small-sized cells (about 10-12 microm in diameter, presumed interneurons) and larger-sized neurons (about 18-20 microm in diameter, likely feedback to inferior olivary neurons). 19358307 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 AlteredExpression disease BEFREE The recent identification of decreased protein levels of glutamate decarboxylase (GAD) 65 and 67 isoforms in the autistic cerebellar tissue raises the possibility that abnormal regulation of GABA production in individual neurons may contribute to the clinical features of autism. 17235515 2007