DisGeNET - a database of gene-disease associations

Source: CLINVAR

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:	C4317146
Disease:	Acid reflux

Acid reflux

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:	C1835884
Disease:	Triangular face

Triangular face

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:	C1844505
Disease:	Pointed chin

Pointed chin

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:	C1849089
Disease:	Broad forehead

Broad forehead

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:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

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:	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:	C2243051
Disease:	Large head (disorder)

Large head (disorder)

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:	C2267233
Disease:	Neonatal Hypotonia

Neonatal Hypotonia

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:	C3494422
Disease:	Retrognathia

Retrognathia

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:	C3808403
Disease:	Large fleshy ears

Large fleshy ears

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:	C4281993
Disease:	Neonatal respiratory distress

Neonatal respiratory distress

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:	C1833102
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES

DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES

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:	C0456070
Disease:	Growth delay

Growth 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:	C0431663
Disease:	Bilateral Cryptorchidism

Bilateral Cryptorchidism

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:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

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:	C0020224
Disease:	Polyhydramnios

Polyhydramnios

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:	C0152421
Disease:	Macrotia

Macrotia

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:	C0232180
Disease:	Cardiac shunt

Cardiac shunt

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:	C0232466
Disease:	Feeding difficulties

Feeding difficulties

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:	C0235991
Disease:	Small for gestational age (disorder)

Small for gestational age (disorder)

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:	C0349588
Disease:	Short stature

Short stature

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:	C0271714
Disease:	Hypoglycemia, leucine-induced

Hypoglycemia, leucine-induced

disease

0.700

None

1.000

2004

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C1835887
Disease:	DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

disease

0.900

None

1.000

2000

2006

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

ATP binding cassette subfamily C member 8

0.474

0.846

8.0E-24

CUI:	C0018802
Disease:	Congestive heart failure

Congestive heart failure

disease

0.110

None

1.000

2011