GJC2, gap junction protein gamma 2, 57165

N. diseases: 115; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040822
Disease: Tremor
Tremor
0.010 GeneticVariation phenotype BEFREE Milder, late-onset phenotypes including complicated spastic paraplegia in one family (SPG44), and mild tremor in one case, were reported associated to GJC2 homozygous missense mutations. 31431325 2019