TTC19, tetratricopeptide repeat domain 19, 54902

N. diseases: 78; 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.
Mitochondrial Respiratory Chain Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2017 2017
CUI: C0751831
Disease: Gait, Frontal
Gait, Frontal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0751830
Disease: Gait Disorders, Neurologic
Gait Disorders, Neurologic
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0751829
Disease: Gait Disorder, Sensorimotor
Gait Disorder, Sensorimotor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2011 2011
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord
group Nervous System Diseases Disease or Syndrome 40 0.300 None 1.000 1 2011 2011
CUI: C0729353
Disease: Subfertility
Subfertility
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 91 3 0.300 None 1.000 1 2011 2011
CUI: C0234996
Disease: Gait, Rigid
Gait, Rigid
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231712
Disease: Waddling gait
Waddling gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.300 None 1.000 1 2011 2011
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 0.300 None 1.000 1 2011 2011
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.010 None < 0.001 1 2015 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2018 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.010 None 1.000 1 2014 2014
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2015 2015
CUI: C0751832
Disease: Gait, Widebased
Gait, Widebased
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2013 2013
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.300 None 1.000 1 2011 2011
CUI: C0231687
Disease: Spastic gait
Spastic gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.300 None 1.000 1 2011 2011
CUI: C0231689
Disease: Gait, Athetotic
Gait, Athetotic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0021359
Disease: Infertility
Infertility
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.300 None 1.000 1 2011 2011
CUI: C0231693
Disease: Charcot Gait
Charcot Gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231694
Disease: Gait, Festinating
Gait, Festinating
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.110 None 1.000 1 2015 2015
CUI: C0231695
Disease: Cerebellar ataxic gait
Cerebellar ataxic gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 1 0.300 None 1.000 1 2011 2011
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 0