ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
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: C0751544
Disease: Tangier Disease Neuropathy
Tangier Disease Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 3 1999 2007
CUI: C4016640
Disease: TANGIER DISEASE, VARIANT
TANGIER DISEASE, VARIANT 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4280753
Disease: Orange discoloured tonsils
Orange discoloured tonsils 		phenotype Finding 1 0.100 None 0
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Pathologic Function 2 0.300 None 1.000 2 2004 2012
CUI: C3165209
Disease: High density lipoprotein deficiency
High density lipoprotein deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.020 None 1.000 2 2002 2002
CUI: C1858114
Disease: HUNTINGTON DISEASE-LIKE 3 (disorder)
HUNTINGTON DISEASE-LIKE 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C3642304
Disease: Placental Malformation
Placental Malformation 		disease Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C0155196
Disease: Cicatricial ectropion
Cicatricial ectropion 		disease Eye Diseases Disease or Syndrome 2 0.100 None 0
CUI: C3711531
Disease: Hdl Deficiency, Type 2
Hdl Deficiency, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 1 0.300 None 1.000 2 1999 2001
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2011 2011
CUI: C4524373
Disease: Hamster Melanoma
Hamster Melanoma 		disease Neoplastic Process 3 0.010 None 1.000 1 1999 1999
CUI: C4024968
Disease: Impaired thermal sensitivity
Impaired thermal sensitivity 		phenotype Finding 3 0.100 None 0
CUI: C1859178
Disease: Progressive peripheral neuropathy
Progressive peripheral neuropathy 		phenotype Finding 5 0.100 None 0
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		phenotype Cardiovascular Diseases Finding 7 0.100 None 0
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
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 0.020 None 1.000 2 2011 2016
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 57 0.010 None 1.000 1 2013 2013
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 22 0.010 None 1.000 1 2018 2018
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.400 None 1.000 21 1 1999 2017
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2017 2017
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 0
CUI: C1858970
Disease: Chronic noninfectious lymphadenopathy
Chronic noninfectious lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Finding 12 0.100 None 0
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 12 0.010 None < 0.001 1 2017 2017
CUI: C0747820
Disease: Malaria, antepartum
Malaria, antepartum 		disease Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 6 0.800 limited 0.972 36 6 1999 2017