MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Acute optic neuropathy associated with a novel MFN2 mutation. 25957633 2015
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients. 24863639 2015
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 24627108 2014
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. 24957169 2014
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR MFN2 mutations cause compensatory mitochondrial DNA proliferation. 22492563 2012
dbSNP: rs587777875
rs587777875
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0270914
Disease:
Hereditary Motor and Sensory-Neuropathy Type II 		T 0.700 CausalMutation CLINVAR A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs. 19350291 2009