GAD1, glutamate decarboxylase 1, 2571

N. diseases: 245; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 AlteredExpression disease BEFREE Here, we employed a valproic acid (VPA) rat model of autism to investigate the autism-like behaviors and GABAergic glutamic acid decarboxylase 67 (GAD67) expression underlying these altered behaviors in multiple brain areas at different developmental stages from birth to adulthood. 30186123 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 Biomarker disease BEFREE Biological and positional evidence supports the involvement of the GAD1 and distal-less homeobox genes (DLXs) in the etiology of autism. 21302352 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 Biomarker disease BEFREE We cannot exclude neither GAD1 as a susceptibility gene nor the possibility of another susceptibility gene for autism to be located on chromosome 2q31. 19139806 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 Biomarker disease CTD_human The National Institutes of Health imaging system showed that expression of GAD67 mRNA in basket cells was significantly up-regulated, by 28%, in eight autistic brains compared with that in eight control brains (mean +/- SEM pixels per cell, 1.03 +/- 0.05 versus 0.69 +/- 0.05, respectively; P < 0.0001 by independent t test). 17918742 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 AlteredExpression disease BEFREE The level of GAD67 mRNA, one of the isoforms of the key synthesizing enzymes for GABA, was quantified at the single-cell level using in situ hybridization in brains of autistic and aged-matched controls. 17918742 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 AlteredExpression disease BEFREE Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications. 17235515 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.360 GeneticVariation disease BEFREE Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. 15542242 2004