LCAT, lecithin-cholesterol acyltransferase, 3931

N. diseases: 94; N. variants: 41
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: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 22 1.000 None 0.974 39 22 1967 2019
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 22 0.800 strong 1.000 23 15 1987 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2017 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.300 None 0
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.220 None 1.000 3 2002 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.220 None 1.000 3 2004 2011
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 0.220 None 1.000 3 2004 2011
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.210 None 1.000 2 2001 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.200 None 1.000 16 1998 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 1 1 2006 2006
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.110 None 1.000 1 2001 2001
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 2 2019 2019
CUI: C4087498
Disease: Familial LCAT deficiency
Familial LCAT deficiency 		disease Disease or Syndrome 8 4 0.100 None 1.000 17 2 1981 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.100 None 1.000 14 1998 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 5 5 2012 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 2 2 2012 2018
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		phenotype Eye Diseases Finding 113 5 0.100 None 1.000 1 2 2019 2019
CUI: C0151691
Disease: Decreased HDL cholesterol concentration
Decreased HDL cholesterol concentration 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 12 2 0.100 None 1.000 1 2 2019 2019
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 3 2012 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0