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: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 4 2012 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2018 2018
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
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: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15 114 0.010 None 1.000 1 2019 2019
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.010 None 1.000 1 2019 2019
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
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: 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
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2008 2008
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.010 None 1.000 1 2016 2016
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: 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: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.010 None 1.000 1 2019 2019
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: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2015 2015
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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
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: 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2019 2019
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