PARD3, par-3 family cell polarity regulator, 56288

N. diseases: 68; N. variants: 15
Disease: Neural Tube Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 Biomarker group BEFREE Our study provides further evidence implicating PARD3 in the etiology of NTDs. 28623428 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 AlteredExpression group BEFREE Consistent with this hypothesis, interference with Par3 activity inhibited asymmetric distribution of PCP junctional complexes and caused neural tube defects. 30256191 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 Biomarker group BEFREE Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization. 28369449 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group BEFREE Our studies suggest that rare deleterious variants of PARD3 in the aPKC-binding region contribute to human cranial NTDs, possibly by disrupting apical tight junction formation and subsequent polarization process of the neuroepithelium. 27925688 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 GeneticVariation group BEFREE Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes. 22447895 2012