Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. 30269814 2018
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
0.600 GeneticVariation disease UNIPROT Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. 30269814 2018
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
0.600 GeneticVariation disease CLINVAR Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. 30269814 2018
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
0.600 CausalMutation disease CLINVAR