rs140845195, ALDH7A1

N. diseases: 3
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, PYRIDOXINE-DEPENDENT
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
0.700 CausalMutation CLINVAR Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. 23350806 2013
EPILEPSY, PYRIDOXINE-DEPENDENT
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
0.700 CausalMutation CLINVAR Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 17068770 2007