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: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
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
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 4 0.700 strong 1.000 6 4 2005 2017
CUI: C4310676
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
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: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
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: 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: C3277376
Disease: Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions 		phenotype Finding 6 0.100 None 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		disease Anatomical Abnormality 6 0.100 None 0
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: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype Laboratory Procedure 13 0.300 None 0
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 2 0.100 None 0
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 1 0.100 None 0
CUI: C0344424
Disease: Ventricular Arrhythmia by ECG Finding
Ventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 17 0.100 None 0
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0 		phenotype Finding 17 0.100 None 0
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0 		phenotype Finding 17 0.100 None 0
CUI: C0795692
Disease: Hyperlactatemia
Hyperlactatemia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2018 2018
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		phenotype Finding 18 30 0.100 None 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		phenotype Finding 21 4 0.100 None 0 1
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		phenotype Finding 21 3 0.100 None 0 1
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 24 1 0.100 None 0
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		phenotype Finding 24 1 0.100 None 0
CUI: C0028734
Disease: Nocturia
Nocturia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 28 0.100 None 0
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 0.010 None 1.000 1 1993 1993
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.010 None 1.000 1 2019 2019