Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5578
Gene Symbol: PRKCA
PRKCA
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 GeneticVariation BEFREE We identified in our cohort one nonsense mutation in exon 1 of CELSR1 that truncates the majority of the protein in one patient with NTD and one in-frame 12 bp deletion that removes a putative PKC phosphorylation "SSR" motif in one caudal agenesis patient. 22371354

2012