MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 21 0.810 None 1.000 23 21 2004 2019
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 10 0.700 strong 1.000 6 10 2006 2016
CUI: C0016512
Disease: Foot pain
Foot pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.100 None 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 None 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A
disease Disease or Syndrome 1 4 0.100 None 0 4
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
Inability to walk by childhood/adolescence
phenotype Finding 4 2 0.100 None 0
CUI: C4025619
Disease: Peripheral axonal atrophy
Peripheral axonal atrophy
disease Disease or Syndrome 4 0.100 None 0
Paresis of extensor muscles of the big toe
phenotype Finding 4 0.100 None 0
CUI: C4025722
Disease: Abnormality of the spinal cord
Abnormality of the spinal cord
group Finding 4 0.100 None 0
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 2 0.100 None 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles
phenotype Finding 5 0.100 None 0
Charcot-Marie-Tooth disease, Type 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.100 None 0.967 30 3 2006 2019
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 11 0.760 strong 1.000 11 11 2006 2016
Neuropathy ataxia and retinis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2011 2011
CUI: C4721916
Disease: HMSN Type V
HMSN Type V
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.310 None 1.000 1 2008 2008
CUI: C1262113
Disease: Lipohypertrophy
Lipohypertrophy
disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C1968790
Disease: Axonal degeneration/regeneration
Axonal degeneration/regeneration
phenotype Finding 8 0.100 None 0
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy
disease Disease or Syndrome 9 2 0.020 None 1.000 2 2016 2018
CUI: C0392553
Disease: Hereditary peripheral neuropathy
Hereditary peripheral neuropathy
disease Nervous System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2010 2010
Distal sensory impairment of all modalities
phenotype Finding 9 0.100 None 0
CUI: C0279746
Disease: Adenocarcinoma of salivary gland
Adenocarcinoma of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 10 0.010 None 1.000 1 2013 2013
CUI: C0239377
Disease: Arm Pain
Arm Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 10 6 0.100 None 0
Partial Paralysis (Paresis) Vocal Cords
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.100 None 0