MFF, mitochondrial fission factor, 56947

N. diseases: 44; N. variants: 7
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: C4310726
Disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 		disease Disease or Syndrome 1 5 0.700 None 1.000 3 5 2012 2016
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype Anatomical Abnormality 17 3 0.010 None 1.000 1 2016 2016
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases 		group Nervous System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2016 2016
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 6 0.100 None 0
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.100 None 0 1
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		phenotype Cardiovascular Diseases Pathologic Function 88 0.300 None 1.000 1 2013 2013
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.030 None 1.000 3 2017 2019
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease Eye Diseases Disease or Syndrome 148 45 0.100 None 1.000 1 1 2018 2018
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.010 None 1.000 1 2018 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm 		phenotype Neoplasms Neoplastic Process 232 4 0.010 None 1.000 1 2019 2019
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2018 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.010 None 1.000 1 1 2018 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2015 2015
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 2016 2016
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.020 None 1.000 2 2016 2018
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2015 2015
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0