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.
CUI: C4721887
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
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
CUI: C0393807
Disease: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
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
CUI: C4310725
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.500 None 1.000 14 1 2006 2017
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.500 None 1.000 3 2007 2017
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.500 None 1.000 2 2015 2016
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.500 None 1.000 1 2017 2017
CUI: C1836485
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.400 None 0.986 70 5 1996 2019
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Neoplastic Process 28 2 0.330 None 0.667 3 1 2015 2019
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: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.310 None 1.000 1 2017 2017
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 154 0.300 None 1.000 1 2017 2017
CUI: C0600519
Disease: Ventricular Remodeling
Ventricular Remodeling 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 24 0.300 None 1.000 1 2011 2011
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 88 11 0.300 None 1.000 1 2007 2007
CUI: C0017667
Disease: Nodular glomerulosclerosis
Nodular glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2016 2016
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.300 None 1.000 1 2014 2014
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2017 2017
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 88 0.300 None 1.000 1 2017 2017
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2017 2017
CUI: C0751213
Disease: Tactile Allodynia
Tactile Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 114 0.300 None 1.000 1 2017 2017
CUI: C0600520
Disease: Left Ventricle Remodeling
Left Ventricle Remodeling 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 21 0.300 None 1.000 1 2011 2011
CUI: C4707897
Disease: Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
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
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.300 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0