GJC2, gap junction protein gamma 2, 57165

N. diseases: 115; N. variants: 20
Disease: Cerebellar signs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		0.010 GeneticVariation phenotype BEFREE Recessive mutations in GJA12/GJC2, the gene that encodes the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), an early onset dysmyelinating disorder of the CNS, characterized by nystagmus, psychomotor delay, progressive spasticity and cerebellar signs. 19056803 2009