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.
CUI: C3554605
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 		disease Disease or Syndrome 1 6 0.400 None 1.000 2 6 2011 2016
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		disease Disease or Syndrome 2 13 0.300 strong 0
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: 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: 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: C0231696
Disease: Gait, Hemiplegic
Gait, Hemiplegic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 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: C0235000
Disease: Gait, Broadened
Gait, Broadened 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0337210
Disease: Gait, Stumbling
Gait, Stumbling 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2011 2011
CUI: C0427128
Disease: Rapid Fatigue of Gait
Rapid Fatigue of Gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0427169
Disease: Marche a Petit Pas
Marche a Petit Pas 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2011 2011
CUI: C0427177
Disease: Gait, Hysterical
Gait, Hysterical 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 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: 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: 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: 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: C4074771
Disease: Sterility, Reproductive
Sterility, Reproductive 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 5 0.300 None 1.000 1 2011 2011
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		disease Disease or Syndrome 10 2 0.040 None 1.000 4 2013 2017
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.530 None 1.000 3 2011 2018
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: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype Finding 17 0.100 None 0
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: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.100 None 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 8 2011 2018