DisGeNET - a database of gene-disease associations

Source: HPO

Gene: ABCA1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

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

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

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

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

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

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

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

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

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C0427065
Disease:	Distal muscle weakness

Distal muscle weakness

phenotype

0.100

None

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C0423250
Disease:	Corneal stromal opacities

Corneal stromal opacities

phenotype

0.100

None

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

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

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

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

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

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

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C3279947
Disease:	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9

disease

0.100

None

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

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

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C1858970
Disease:	Chronic noninfectious lymphadenopathy

Chronic noninfectious lymphadenopathy

phenotype

0.100

None

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

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C0375206
Disease:	Hemiplegia/hemiparesis

Hemiplegia/hemiparesis

disease

0.100

None

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C0344232
Disease:	Blurred vision

Blurred vision

phenotype

0.100

None

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C0242231
Disease:	Coronary Stenosis

Coronary Stenosis

disease

0.100

None

Entrez Id:	19
Gene Symbol:	ABCA1

ABCA1

ATP binding cassette subfamily A member 1

0.467

0.846

1.5E-13

CUI:	C0007282
Disease:	Carotid Stenosis

Carotid Stenosis

disease

0.100

None