Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 GeneticVariation disease BEFREE Consistent with previous reports, spina bifida was associated with MTHFR 677C>T, T (Brachyury) rs3127334, LEPR K109R, and PDGFRA promoter haplotype combinations. 21204206 2011
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 GeneticVariation disease BEFREE These data suggest that the child's PDGFRA promoter haplotype is differentially sensitive for periconceptional exposure to glucose, myo-inositol, and zinc in the risk of spina bifida. 19215021 2009
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 GeneticVariation disease LHGDN In a previous study of spina bifida (SB) patients of European Caucasian descent, it was suggested that specific haplotypes of the platelet-derived growth factor receptor-alpha (PDGFRA) gene P1 promoter strongly affected the rate of NTD genesis. 16283668 2005
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 GeneticVariation disease BEFREE In a previous study of spina bifida (SB) patients of European Caucasian descent, it was suggested that specific haplotypes of the platelet-derived growth factor receptor-alpha (PDGFRA) gene P1 promoter strongly affected the rate of NTD genesis. 16283668 2005
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 Biomarker disease BEFREE The YAC transgene was expressed in neural crest cells, rescued the profound craniofacial abnormalities and spina bifida observed in PDGFRalpha knockout mice and prolonged survival until birth. 11023856 2000
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 Biomarker disease CTD_human The YAC transgene was expressed in neural crest cells, rescued the profound craniofacial abnormalities and spina bifida observed in PDGFRalpha knockout mice and prolonged survival until birth. 11023856 2000
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.350 AlteredExpression disease BEFREE Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins. 9826722 1998