PRKCB, protein kinase C beta, 5579

N. diseases: 317; N. variants: 18
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 AlteredExpression disease BEFREE These results confirm the association between autism and PRKCB1 gene variants, point toward PKCbeta roles in altered epithelial permeability, demonstrate a significant downregulation of brain PRKCB1 gene expression in autism and suggest that it could represent a compensatory adjustment aimed at limiting an ongoing dysreactive immune process. 18317465 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE Our data do not support the finding that the PRKCB1 gene variants contribute risk for the development of autism. 17167344 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism. 16027742 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism. 16027742 2005