Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 Biomarker disease GENOMICS_ENGLAND 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
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 Biomarker disease GENOMICS_ENGLAND 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
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 GeneticVariation disease 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
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 GermlineCausalMutation disease ORPHANET 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
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 GeneticVariation disease CLINVAR
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 Biomarker disease CTD_human
Cerebral Palsy, Spastic Quadriplegic, 1
0.700 CausalMutation disease CLINVAR