CPT1A, carnitine palmitoyltransferase 1A, 1374

N. diseases: 143; N. variants: 61
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: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2015 2015
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 2019 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2014 2014
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2011 2011
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2015 2015
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2014 2014
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29 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: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2018 2018
CUI: C0238478
Disease: Transient erythroblastopenia of childhood
Transient erythroblastopenia of childhood 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 0.010 None 1.000 1 2018 2018
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2019 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.010 None 1.000 1 2014 2014
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2011 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2017 2017
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 1 2019 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None < 0.001 1 2003 2003
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2019 2019
CUI: C3658248
Disease: Hypertriglyceridemic Waist
Hypertriglyceridemic Waist 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 0.010 None < 0.001 1 2016 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2019 2019
CUI: C3839868
Disease: Cytogenetically normal acute myeloid leukemia
Cytogenetically normal acute myeloid leukemia 		disease Neoplasms Neoplastic Process 91 9 0.010 None 1.000 1 2016 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2017 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2017 2017
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		disease Congenital Abnormality 71 0.010 None 1.000 1 2017 2017