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:	C0520947
Disease:	Clumsiness - motor delay

Clumsiness - motor delay

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:	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:	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:	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:	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:	C1856438
Disease:	Hypoketotic hypoglycemia

Hypoketotic hypoglycemia

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:	C1856904
Disease:	Reduced pancreatic beta cells

Reduced pancreatic beta cells

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:	C1857949
Disease:	Prominent metopic ridge

Prominent metopic ridge

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:	C1859523
Disease:	Contractures of the joints of the lower limbs

Contractures of the joints of the lower limbs

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:	C1864903
Disease:	Hyperinsulinemic hypoglycemia

Hyperinsulinemic hypoglycemia

disease

0.200

None

0.952

1999

2020

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1865014
Disease:	Long philtrum

Long philtrum

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:	C1865916
Disease:	Bilateral ptosis

Bilateral ptosis

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:	C1848395
Disease:	Large for gestational age

Large for gestational age

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:	C1847425
Disease:	Abnormal oral glucose tolerance

Abnormal oral glucose tolerance

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:	C0546884
Disease:	Hypovolemia

Hypovolemia

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:	C0557874
Disease:	Global developmental delay

Global developmental delay

disease

0.110

None

1.000

2012

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C0597167
Disease:	Islets of Langerhans hyperplasia

Islets of Langerhans hyperplasia

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:	C0684276
Disease:	Hypsarrhythmia

Hypsarrhythmia

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:	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:	C1262477
Disease:	Weight decreased

Weight decreased

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:	C1263857
Disease:	Peripheral axonal neuropathy

Peripheral axonal neuropathy

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:	C1384666
Disease:	hearing impairment

hearing impairment

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:	C1836189
Disease:	Radial deviation of finger

Radial deviation of finger

phenotype

0.100

None