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: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic neuropathy
phenotype Finding 3 0.100 None 0
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence
phenotype Disease or Syndrome 39 0.100 None 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 moderate 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 42 3 0.100 None 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0 1
Atrophy/Degeneration involving the spinal cord
phenotype Finding 2 0.100 None 0
Increased variability in muscle fiber diameter
phenotype Finding 50 4 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
phenotype Infections; Nervous System Diseases; Stomatognathic Diseases Finding 42 4 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0 1
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.100 None 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 0.100 None 0