Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease 0.200 None 0.978 0 0 2000 2019
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease 0.180 None 1.000 0 0 2004 2016
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
Premature coronary artery atherosclerosis
phenotype 0.150 None 1.000 0 0 2002 2015
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype 0.140 None 1.000 0 0 2000 2019
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.110 None 1.000 0 0 2004 2004
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0002871
Disease: Anemia
Anemia
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1836003
Disease: Facial diplegia
Facial diplegia
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
Chronic noninfectious lymphadenopathy
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C4024968
Disease: Impaired thermal sensitivity
Impaired thermal sensitivity
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation
disease 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C4280753
Disease: Orange discoloured tonsils
Orange discoloured tonsils
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C1859178
Disease: Progressive peripheral neuropathy
Progressive peripheral neuropathy
phenotype 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.467 0.846 1.5E-13
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype 0.100 None 0 0