DisGeNET - a database of gene-disease associations

Source: HPO

Gene: ABCC8 ×

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:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1853743
Disease:	Muscular hypotonia of the trunk

Muscular hypotonia of the trunk

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1840077
Disease:	Anteverted nostril

Anteverted nostril

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C0877056
Disease:	Hypoglycemic seizures

Hypoglycemic seizures

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1836623
Disease:	Decreased circulating cortisol level

Decreased circulating cortisol level

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1854838
Disease:	Progressive neurologic deterioration

Progressive neurologic deterioration

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C0730345
Disease:	Microalbuminuria

Microalbuminuria

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1854301
Disease:	Motor delay

Motor delay

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1962966
Disease:	Retinopathy, CTCAE

Retinopathy, CTCAE

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1963060
Disease:	Agitation, CTCAE 3.0

Agitation, CTCAE 3.0

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4024168
Disease:	Thickened ears

Thickened ears

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4024716
Disease:	Secondary growth hormone deficiency

Secondary growth hormone deficiency

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4025043
Disease:	Abnormality of the pancreatic islet cells

Abnormality of the pancreatic islet cells

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4073162
Disease:	Elevated hemoglobin A1c

Elevated hemoglobin A1c

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4280765
Disease:	Abnormal C-peptide level

Abnormal C-peptide level

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4721453
Disease:	Peripheral Nervous System Diseases

Peripheral Nervous System Diseases

group

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4551485
Disease:	Clinodactyly

Clinodactyly

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4552810
Disease:	Irritability, CTCAE

Irritability, CTCAE

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4552855
Disease:	Agitation, CTCAE 5.0

Agitation, CTCAE 5.0

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4553743
Disease:	Spasticity, CTCAE

Spasticity, CTCAE

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4022798
Disease:	Abnormal brain FDG positron emission tomography

Abnormal brain FDG positron emission tomography

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4022484
Disease:	Clinodactyly of the 4th finger

Clinodactyly of the 4th finger

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C4021759
Disease:	Generalized myoclonic seizures

Generalized myoclonic seizures

disease

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1969875
Disease:	Beta-cell dysfunction

Beta-cell dysfunction

phenotype

0.100

None

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1969879
Disease:	Limb joint contracture

Limb joint contracture

phenotype

0.100

None