GAD1, glutamate decarboxylase 1, 2571

N. diseases: 245; N. variants: 14
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		0.010 GeneticVariation disease BEFREE Thus, an etiological mechanism other than a K(m) mutant GAD is responsible for pyridoxine-dependent epilepsy. 9621518 1998