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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.120 None 1.000 2 1 2013 2013
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.020 None 1.000 2 2004 2005
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.020 None 1.000 2 1997 2017
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.020 None 1.000 2 1994 2018
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: 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: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		disease Disease or Syndrome 1 6 0.600 None 1.000 2 6 2010 2014
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.020 None 1.000 2 2004 2008
CUI: C0011119
Disease: Decompression Sickness
Decompression Sickness 		disease Wounds and Injuries Disease or Syndrome 98 0.010 None 1.000 1 2019 2019
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.110 None 1.000 1 2009 2009
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.010 None 1.000 1 2019 2019
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		disease Digestive System Diseases Disease or Syndrome 49 5 0.010 None 1.000 1 2017 2017
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.010 None 1.000 1 2001 2001
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 88 11 0.010 None 1.000 1 2014 2014
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.010 None 1.000 1 2019 2019
CUI: C0021167
Disease: Incontinence
Incontinence 		disease Nervous System Diseases Disease or Syndrome 70 1 0.010 None 1.000 1 2009 2009
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 135 12 0.010 None 1.000 1 2002 2002
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None < 0.001 1 2013 2013
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 2013 2013
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2019 2019
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.110 None 1.000 1 1 2013 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2017 2017
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.110 None 1.000 1 2010 2010
CUI: C0151846
Disease: Periosteal Disorder
Periosteal Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 80 0.010 None 1.000 1 2018 2018
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 6 0.110 None 1.000 1 2011 2011