APOC2, apolipoprotein C2, 344

N. diseases: 68; N. variants: 14
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: C1274228
Disease: Chylomicronemia syndrome
Chylomicronemia syndrome 		disease Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C1291447
Disease: Deficiency of triacylglycerol lipase
Deficiency of triacylglycerol lipase 		disease Disease or Syndrome 3 0.010 None 1.000 1 1988 1988
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1993 1993
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 2 2018 2018
CUI: C3889891
Disease: APOLIPOPROTEIN C-II (PADOVA) PHENOTYPE
APOLIPOPROTEIN C-II (PADOVA) PHENOTYPE 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4017134
Disease: APOLIPOPROTEIN C-II (PARIS) PHENOTYPE
APOLIPOPROTEIN C-II (PARIS) PHENOTYPE 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4017135
Disease: APOLIPOPROTEIN C-II (BARI) PHENOTYPE
APOLIPOPROTEIN C-II (BARI) PHENOTYPE 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4017136
Disease: APOLIPOPROTEIN C-II VARIANT PHENOTYPE
APOLIPOPROTEIN C-II VARIANT PHENOTYPE 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4017137
Disease: APOLIPOPROTEIN C-II (SAN FRANCISCO)
APOLIPOPROTEIN C-II (SAN FRANCISCO) 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4017138
Disease: apolipoprotein C-II (Wakayama) phenotype
apolipoprotein C-II (Wakayama) phenotype 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4017139
Disease: APOLIPOPROTEIN C-II (AUCKLAND) PHENOTYPE
APOLIPOPROTEIN C-II (AUCKLAND) PHENOTYPE 		phenotype Finding 2 1 0.100 None 0 1
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2012 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2001 2001
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2001 2001
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 1 2010 2010
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.100 None 1.000 23 1985 2007
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.020 None 1.000 2 1990 1991
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 2014 2014
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 36 64 0.400 None 1.000 11 1981 2018
CUI: C1720779
Disease: Apolipoprotein C-II Deficiency (disorder)
Apolipoprotein C-II Deficiency (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.750 None 1.000 9 5 1993 2017
CUI: C0268199
Disease: Familial apolipoprotein C-II deficiency
Familial apolipoprotein C-II deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.330 None 1.000 4 1979 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.010 None 1.000 1 1993 1993
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 24 0.010 None 1.000 1 1988 1988
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.010 None 1.000 1 1991 1991
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 7 0.010 None 1.000 1 2019 2019