SLC22A5, solute carrier family 22 member 5, 6584

N. diseases: 103; N. variants: 130
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: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 1.000 definitive 0.979 95 119 1985 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.500 strong 1.000 2 2011 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.400 None 0.912 34 3 2003 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.350 limited 1.000 6 2 2002 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.310 None 1.000 1 2011 2011
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 124 0.300 strong 1.000 2 2014 2016
CUI: C0010246
Disease: Coxsackievirus Infections
Coxsackievirus Infections
group Infections Disease or Syndrome 48 1 0.300 None 1.000 1 2011 2011
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.300 limited 1.000 1 2018 2018
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 13 0.300 limited 1.000 1 2018 2018
CUI: C0869523
Disease: Carditis
Carditis
disease Cardiovascular Diseases Disease or Syndrome 13 1 0.300 None 1.000 1 2011 2011
CUI: C0027059
Disease: Myocarditis
Myocarditis
disease Cardiovascular Diseases Disease or Syndrome 285 2 0.300 None 1.000 1 2011 2011
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 2011 2011
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 420 12 0.300 None 1.000 1 2015 2015
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.130 None 1.000 6 1 2010 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.110 None 1.000 2 1 2006 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.110 None 1.000 1 2008 2008
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.110 None 1.000 1 2019 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.110 None 1.000 1 2011 2011
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2009 2009
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.110 None 1.000 1 2019 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 11 1 2005 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
phenotype Laboratory Procedure 55 143 0.100 None 1.000 1 1 2011 2011
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity
phenotype Molecular Function 26 63 0.100 None 1.000 1 1 2011 2011