DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3 ×

Gene: ABCA3 ×

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909182

ABCA3

CUI:	C1970456
Disease:	Surfactant Metabolism Dysfunction, Pulmonary, 3

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs121909183

ABCA3

CUI:	C1970456
Disease:	Surfactant Metabolism Dysfunction, Pulmonary, 3

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs121909184

ABCA3

CUI:	C1970456
Disease:	Surfactant Metabolism Dysfunction, Pulmonary, 3

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs28936691

ABCA3

CUI:	C1970456
Disease:	Surfactant Metabolism Dysfunction, Pulmonary, 3

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004