Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
disease 0.810 None 1.000 18 14 2004 2019
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
disease 0.760 strong 1.000 0 10 2006 2016
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
disease 0.700 strong 1.000 4 8 2006 2016
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.400 None 0.986 5 2 1996 2019
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
Hereditary Motor and Sensory-Neuropathy Type II
disease 0.200 None 1.000 73 37 1976 2019
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
disease 0.100 None 0 4
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0008767
Disease: Cicatrization
Cicatrization
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
group 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy
disease 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype 0.100 None 0 2
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
phenotype 0.100 None 0 1