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: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		disease Disease or Syndrome 10 2 0.040 None 1.000 4 2013 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.320 None 1.000 3 2011 2015
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: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.020 None 1.000 2 2011 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2019 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.310 None 1.000 2 2011 2015
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: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.300 None 1.000 1 2011 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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