APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
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: C3888316
Disease: Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B 		disease Disease or Syndrome 1 0.300 definitive 1.000 10 1987 2014
CUI: C1704299
Disease: Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypobetalipoproteinemia, Familial, Apolipoprotein B 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.310 None 1.000 4 1987 1995
CUI: C0523509
Disease: Apolipoprotein B Assay
Apolipoprotein B Assay 		phenotype Laboratory Procedure 1 2 0.100 None 1.000 1 1 2017 2017
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 17 0.710 strong 1.000 33 17 1989 2018
CUI: C0239549
Disease: Fat intolerance
Fat intolerance 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2002 2002
CUI: C0268197
Disease: Familial lipoprotein deficiency
Familial lipoprotein deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2011 2011
CUI: C1272174
Disease: Scotopic sensitivity
Scotopic sensitivity 		disease Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C1857970
Disease: Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 7 0.200 None 1.000 2 1996 1999
CUI: C0259771
Disease: Steatocystoma multiplex
Steatocystoma multiplex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Neoplastic Process 3 4 0.010 None 1.000 1 1991 1991
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2014 2014
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2005 2005
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2005 2005
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 29 0.010 None 1.000 1 2005 2005
CUI: C1262005
Disease: Ischaemic cerebral infarction
Ischaemic cerebral infarction 		disease Disease or Syndrome 6 0.010 None 1.000 1 2010 2010
CUI: C1720505
Disease: Adult growth hormone deficiency
Adult growth hormone deficiency 		disease Disease or Syndrome 6 0.010 None 1.000 1 1997 1997
CUI: C2239120
Disease: eyelids (symptom)
eyelids (symptom) 		phenotype Sign or Symptom 6 1 0.010 None 1.000 1 1982 1982
CUI: C4022811
Disease: Abnormality of nervous system physiology
Abnormality of nervous system physiology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Pathologic Function 6 0.100 None 0
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		phenotype Pathologic Function 6 0.100 None 0
CUI: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 6 0.100 None 0
CUI: C4025000
Disease: Myocardial steatosis
Myocardial steatosis 		phenotype Finding 6 0.100 None 0
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		disease Finding 7 0.100 None 0
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.020 None 1.000 2 1998 2002
CUI: C4087498
Disease: Familial LCAT deficiency
Familial LCAT deficiency 		disease Disease or Syndrome 8 4 0.020 None 0.500 2 1 2003 2018
CUI: C0242084
Disease: Ruptured cerebral aneurysm
Ruptured cerebral aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 8 0.010 None 1.000 1 1994 1994
CUI: C0919890
Disease: Hyperfibrinogenemia
Hyperfibrinogenemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2001 2001