TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
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: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 18 0.700 None 1.000 17 18 2001 2019
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		disease Disease or Syndrome 1 6 0.600 None 1.000 2 6 2010 2014
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		phenotype Finding 1 2 0.100 None 1.000 1 2 2016 2016
CUI: C0270942
Disease: Myasthenic crisis
Myasthenic crisis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C2315430
Disease: Orthostatic tremor
Orthostatic tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2013 2013
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2014 2014
CUI: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		phenotype Finding 2 0.100 None 0
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 		disease Finding 2 2 0.100 None 0 1
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1 2013 2013
CUI: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy 		phenotype Finding 3 0.100 None 0
CUI: C4025714
Disease: Abnormality of the autonomic nervous system
Abnormality of the autonomic nervous system 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 15 0.510 None 1.000 2 2005 2014
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		phenotype Finding 4 6 0.100 None 0
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 13 0.300 None 1.000 2 2001 2011
CUI: C0233417
Disease: Poor concentration
Poor concentration 		phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 10 0.770 None 1.000 14 10 1997 2019
CUI: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		phenotype Finding 6 0.100 None 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C0548923
Disease: Burn infection
Burn infection 		disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs 		phenotype Sign or Symptom 7 1 0.010 None 1.000 1 2009 2009
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		phenotype Pathologic Function 7 0.100 None 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception 		phenotype Finding 7 1 0.100 None 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		disease Disease or Syndrome 7 1 0.100 None 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 13 0.100 None 1.000 1 2 2016 2016