Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918345
rs121918345
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
CUI: C2751938
Disease:
Cerebral Palsy, Spastic Quadriplegic, 1
0.800 GeneticVariation UNIPROT Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. 15571623 2004
dbSNP: rs121918345
rs121918345
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
CUI: C2751938
Disease:
Cerebral Palsy, Spastic Quadriplegic, 1
0.800 GeneticVariation UNIPROT Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 15037681 2004
dbSNP: rs121918345
rs121918345
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
CUI: C2751938
Disease:
Cerebral Palsy, Spastic Quadriplegic, 1
G 0.800 CausalMutation CLINVAR
dbSNP: rs774953382
rs774953382
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
CUI: C2751938
Disease:
Cerebral Palsy, Spastic Quadriplegic, 1
T 0.700 GeneticVariation CLINVAR