MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: HMSN Type V ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		0.310 GeneticVariation disease BEFREE Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI). 18946002 2008
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		0.310 GermlineCausalMutation disease ORPHANET