CPT1B, carnitine palmitoyltransferase 1B, 1375

N. diseases: 42; N. variants: 13
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: C0027404
Disease: Narcolepsy
Narcolepsy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.360 None 1.000 6 1 2008 2016
CUI: C0751362
Disease: Narcolepsy-Cataplexy Syndrome
Narcolepsy-Cataplexy Syndrome
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 30 7 0.310 None 1.000 2 1 2008 2009
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 88 11 0.300 None 1.000 1 2014 2014
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.300 None 1.000 1 2014 2014
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0038433
Disease: Streptozotocin Diabetes
Streptozotocin Diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2004 2004
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.300 None 1.000 1 2014 2014
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.300 None 1.000 1 2014 2014
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0.300 None 1.000 1 2004 2004
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.300 None 1.000 1 2004 2004
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 4 2012 2012
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 1.000 2 2015 2015
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.020 None 1.000 2 1 2013 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.020 None 1.000 2 1 2013 2017
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2019 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 3 2013 2013
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis
disease Infections; Musculoskeletal Diseases Disease or Syndrome 34 1 0.010 None 1.000 1 2019 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2019 2019
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 2010 2010
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C0917799
Disease: Hypersomnia
Hypersomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.010 None 1.000 1 2009 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 61 24 0.010 None 1.000 1 2018 2018
Very long chain acyl-CoA dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 118 0.010 None 1.000 1 2019 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2010 2010