MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Congenital neurologic anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		0.010 GeneticVariation group BEFREE Deafness and autoimmune disorders were more often associated with PMP22 duplication, while MFN2 and GJB1 mutations were frequently present with central nervous system abnormalities. 29174527 2018