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: C2230441
Disease: Triceps weakness
Triceps weakness 		phenotype Finding 18 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0040264
Disease: Tinnitus
Tinnitus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.100 None 0
CUI: C1850854
Disease: Increased laxity of ankles
Increased laxity of ankles 		phenotype Finding 5 0.100 None 0
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 42 3 0.100 None 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		phenotype Finding 28 1 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		phenotype Finding 22 27 0.100 None 0 1
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype Finding 23 1 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0 1
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.200 None 0
CUI: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		phenotype Finding 9 0.100 None 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0 1
CUI: C1968790
Disease: Axonal degeneration/regeneration
Axonal degeneration/regeneration 		phenotype Finding 8 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0