PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.030 Biomarker phenotype BEFREE PRKCG has also been identified as an important node in ataxia gene networks more broadly, but the functional role of PKC in other forms of ataxia remains unexplored, and the mechanisms by which PKC isozymes regulate Purkinje neuron health are not well understood. 29432535 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.030 Biomarker phenotype BEFREE We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype. 21434874 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		0.030 Biomarker phenotype BEFREE The entire coding region of PRKCG was sequenced in an affected member of family AT08 and in a group of 39 unrelated patients with ataxia not attributable to trinucleotide expansions. 12644968 2003