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.
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		disease Disease or Syndrome 1 0.300 definitive 1.000 10 1989 2015
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.040 None 0.750 4 1993 2005
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 0.667 3 2008 2019
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: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
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: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2002 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
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 216 12 0.020 None 1.000 2 2001 2003
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: C2718001
Disease: Protein Misfolding Disorders
Protein Misfolding Disorders 		disease Nutritional and Metabolic Diseases Disease or Syndrome 38 1 0.010 None 1.000 1 2015 2015
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.010 None 1.000 1 2018 2018
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
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2017 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2019 2019
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2010 2010
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2002 2002
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2005 2005
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		group Nervous System Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 2019 2019
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		disease Mental Disorders Mental or Behavioral Dysfunction 160 34 0.110 None 1.000 1 2003 2003
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None < 0.001 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2000 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2012 2012