DisGeNET - a database of gene-disease associations

ABCG5, ATP binding cassette subfamily G member 5, 64240

N. diseases: 108; N. variants: 15

Disease: Asphyxiating Thoracic Dystrophy 1 ×

Variant: rs879255655 ×

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:

rs879255655

0.882

0.120

43809711

stop gained

G/T

snv

CUI:	C4551856
Disease:	Asphyxiating Thoracic Dystrophy 1

Asphyxiating Thoracic Dystrophy 1

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases

0.700