SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
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.
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 strong 1.000 9 4 2000 2017
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 4 0.700 strong 1.000 6 4 2005 2017
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
disease Disease or Syndrome 1 3 0.700 strong 1.000 2 3 2016 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.430 None 1.000 3 2003 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.420 limited 1.000 3 1 2008 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.400 strong 1.000 2 1 2016 2017
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 7 15 0.310 None 1.000 2 2002 2012
Mitochondrial DNA Depletion Syndrome 12
disease Disease or Syndrome 1 0.300 definitive 1.000 10 1989 2015
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 13 0.300 None 1.000 2 2000 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
Progeroid Syndrome, Congenital, Petty Type
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 2 0.300 moderate 1.000 1 2018 2018
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies
disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.300 None 1.000 1 2009 2009
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.300 None 0
Cardiomyopathy, Hypertrophic, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 83 355 0.300 None 0
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 13 0.300 None 0
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 0.200 None 1.000 17 1 2001 2018
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.200 None 1.000 1 2007 2007
CUI: C0007192
Disease: Cardiomyopathy, Alcoholic
Cardiomyopathy, Alcoholic
disease Chemically-Induced Disorders; Cardiovascular Diseases Disease or Syndrome 30 0.200 None 1.000 1 2011 2011
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.200 None 1.000 1 2014 2014
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.200 None 1.000 1 2013 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.140 None 1.000 4 2 2000 2018
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.130 None 1.000 3 1993 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.120 None 1.000 2 2002 2017
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 185 34 0.110 None 1.000 1 2003 2003
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1
disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.110 None 1.000 1 2003 2003