MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 Biomarker disease MGD
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.760 Biomarker disease CTD_human
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.760 CausalMutation disease CLINVAR
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Hereditary motor and sensory neuropathy with optic atrophy (disorder) 		0.760 GeneticVariation disease CLINVAR
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.700 CausalMutation disease CLINVAR
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 		0.700 Biomarker disease CTD_human
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C1836485
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) 		0.500 Biomarker disease MGD
CUI: C1836485
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) 		0.500 Biomarker disease CTD_human
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.400 Biomarker disease MGD
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		0.300 Biomarker phenotype HPO
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C4707897
Disease: Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.240 Biomarker group MGD
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.200 Biomarker disease MGD
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker disease MGD
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 Biomarker disease MGD
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 Biomarker disease MGD
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		0.200 Biomarker disease MGD
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		0.110 Biomarker disease HPO