DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
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: C1456275
Disease: Mitochondrial metabolism disorder, unspecified
Mitochondrial metabolism disorder, unspecified 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0025235
Disease: Melkersson-Rosenthal Syndrome
Melkersson-Rosenthal Syndrome 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0431427
Disease: Anomalies of cerebrum
Anomalies of cerebrum 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C0456144
Disease: Cerebral dysgenesis
Cerebral dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		disease Disease or Syndrome 3 8 0.700 strong 1.000 9 8 2007 2018
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.700 strong 1.000 3 4 2007 2017
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		disease Disease or Syndrome 5 0.100 None 0
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system 		disease Anatomical Abnormality 7 1 0.100 None 1.000 2 1 2016 2016
CUI: C0810031
Disease: alcohol-related liver disease
alcohol-related liver disease 		disease Digestive System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2019 2019
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		phenotype Finding 14 24 0.100 None 0 1
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2016 2016
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease Nervous System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 1.000 2 1 2016 2016
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.020 None 1.000 2 2016 2018
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.010 None 1.000 1 2019 2019
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2016 2016
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 25 12 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: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		disease Disease or Syndrome 27 2 0.100 None 0
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.010 None 1.000 1 2018 2018
CUI: C0746556
Disease: metabolic disturbance
metabolic disturbance 		disease Disease or Syndrome 29 4 0.010 None 1.000 1 2019 2019
CUI: C0746731
Disease: Acute myocardial ischemia
Acute myocardial ischemia 		disease Cardiovascular Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2017 2017
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2019 2019