APOC3, apolipoprotein C3, 345

N. diseases: 153; N. variants: 15
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: C3151467
Disease: Apolipoprotein C-III Deficiency
Apolipoprotein C-III Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 4 0.610 None 1.000 2 4 1991 2016
APOLIPOPROTEIN C-III, NONGLYCOSYLATED PHENOTYPE
phenotype Finding 1 1 0.100 None 0 1
CUI: C0596848
Disease: lipoprotein disorder
lipoprotein disorder
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1992 1992
Deficiency of triacylglycerol lipase
disease Disease or Syndrome 3 0.010 None 1.000 1 1996 1996
Increased HDL cholesterol concentration
phenotype Nutritional and Metabolic Diseases Finding 3 0.100 None 0
CUI: C0202171
Disease: Phosphatidylinositol measurement
Phosphatidylinositol measurement
phenotype Laboratory Procedure 4 6 0.100 None 1.000 1 1 2019 2019
CUI: C0854441
Disease: Gastric mucosal lesion
Gastric mucosal lesion
disease Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C4016282
Disease: BREAST CANCER, SOMATIC
BREAST CANCER, SOMATIC
disease Neoplastic Process 4 1 0.010 None 1.000 1 1999 1999
CUI: C1858501
Disease: Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 12
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2012 2012
CUI: C0221715
Disease: Intestinal carcinoma
Intestinal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 1992 1992
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia
disease Disease or Syndrome 9 2 0.110 None 1.000 1 1 2010 2010
Decreased LDL cholesterol concentration
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Finding 9 0.100 None 0
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 6 0.010 None 1.000 1 2016 2016
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 1992 1992
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 2016 2016
CUI: C0856151
Disease: Fat redistribution
Fat redistribution
phenotype Disease or Syndrome 12 0.010 None 1.000 1 2007 2007
CUI: C4476910
Disease: Thin-cap fibroatheroma
Thin-cap fibroatheroma
phenotype Cardiovascular Diseases Acquired Abnormality 12 0.010 None 1.000 1 2018 2018
CUI: C0267953
Disease: Necrosis of pancreas
Necrosis of pancreas
disease Digestive System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2019 2019
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia
disease Disease or Syndrome 17 4 0.010 None 1.000 1 2017 2017
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2009 2009
Hyperkeratosis lenticularis perstans
disease Skin and Connective Tissue Diseases Disease or Syndrome 18 11 0.010 None 1.000 1 2009 2009
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 1986 1986
CUI: C0342335
Disease: insulin resistance in diabetes
insulin resistance in diabetes
disease Nutritional and Metabolic Diseases Disease or Syndrome 21 1 0.010 None 1.000 1 2017 2017
Cholesteryl Ester Transfer Protein Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 22 5 0.320 None 1.000 2 1 1991 2014
CUI: C2609253
Disease: Macrovascular disease
Macrovascular disease
disease Disease or Syndrome 23 1 0.010 None 1.000 1 2005 2005