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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.050 None 1.000 5 2011 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 0.667 3 2017 2018
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: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease Disease or Syndrome 23 7 0.020 None 1.000 2 2006 2010
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		phenotype Disease or Syndrome 12 0.010 None 1.000 1 2010 2010
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2014 2014
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2016 2016
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: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C2242708
Disease: Hypertransaminasaemia
Hypertransaminasaemia 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		phenotype Finding 13 1 0.100 None 0 1
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.040 None 1.000 4 2005 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.030 None 1.000 3 2005 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 0.500 2 2015 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.020 None 1.000 2 2001 2002
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2015 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2015 2015
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		disease Cardiovascular Diseases Disease or Syndrome 119 0.010 None 1.000 1 2008 2008
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: 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: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2015 2015
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2017 2017
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.010 None 1.000 1 2012 2012
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