TFAM, transcription factor A, mitochondrial, 7019

N. diseases: 147; N. variants: 4
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: C4310690
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) 		disease Disease or Syndrome 1 0.600 moderate 1.000 1 2016 2016
CUI: C2242708
Disease: Hypertransaminasaemia
Hypertransaminasaemia 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1855652
Disease: Fetus Small for Gestational Age
Fetus Small for Gestational Age 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 4 2 0.100 None 0 1
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 1 0.100 None 0 1
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 11 0.100 None 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		phenotype Disease or Syndrome 12 0.010 None 1.000 1 2010 2010
CUI: C0751414
Disease: Parkinson Disease, Secondary Vascular
Parkinson Disease, Secondary Vascular 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2018 2018
CUI: C0751415
Disease: Atherosclerotic Parkinsonism
Atherosclerotic Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2018 2018
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		phenotype Finding 13 1 0.100 None 0 1
CUI: C2931673
Disease: Ceroid lipofuscinosis, neuronal 1, infantile
Ceroid lipofuscinosis, neuronal 1, infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.300 None 1.000 1 2011 2011
CUI: C0264122
Disease: Atrophy, Disuse
Atrophy, Disuse 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0030569
Disease: Secondary Parkinson Disease
Secondary Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 18 1 0.300 None 1.000 1 2018 2018
CUI: C0027613
Disease: Neonatal hepatitis
Neonatal hepatitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections Disease or Syndrome 21 2 0.010 None 1.000 1 2002 2002
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease Disease or Syndrome 23 7 0.020 None 1.000 2 2006 2010
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 0.200 None 0
CUI: C0151785
Disease: Disease of mucous membrane
Disease of mucous membrane 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 30 0.010 None 1.000 1 2016 2016
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.110 None 1.000 1 1 2016 2016
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary 		disease Infections Disease or Syndrome 34 16 0.010 None 1.000 1 1 2017 2017
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		disease Disease or Syndrome 36 7 0.120 None 1.000 2 1 1994 2011
CUI: C0036982
Disease: Shock, Hemorrhagic
Shock, Hemorrhagic 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.200 None 1.000 1 2012 2012
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.010 None 1.000 1 2003 2003
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 2000 2000
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		disease Neoplasms Neoplastic Process 60 0.300 None 1.000 1 2011 2011
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 0.010 None < 0.001 1 2011 2011
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 2008 2008