DisGeNET - a database of gene-disease associations

ABCC8, ATP binding cassette subfamily C member 8, 6833

N. diseases: 317; N. variants: 213

Disease: Hyperinsulinemic hypoglycemia, familial, 1 ×

Variant: rs1260178539 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1260178539

1.000

0.120

17432241

frameshift variant

A/-

delins

6.3E-06

CUI:	C2931832
Disease:	Hyperinsulinemic hypoglycemia, familial, 1

Hyperinsulinemic hypoglycemia, familial, 1

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases

0.700

1.000

2013