rs368820286, ALDH7A1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. 23350806 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. 23350806 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. 23350806 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). 20554659 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). 20554659 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). 20554659 2010
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. 18762976 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 19142996 2009
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. 18762976 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. 18762976 2009
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 19142996 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 19142996 2009
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 17068770 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. 17088338 2007
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. 17088338 2007
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 17068770 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 17068770 2007
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. 17088338 2007
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 16491085 2006
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 16491085 2006
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 16491085 2006
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Epidemiology of pyridoxine dependent seizures in the Netherlands. 16159904 2005
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Epidemiology of pyridoxine dependent seizures in the Netherlands. 16159904 2005
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Epidemiology of pyridoxine dependent seizures in the Netherlands. 16159904 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 8913181 1996