DisGeNET - a database of gene-disease associations

ABCA3, ATP binding cassette subfamily A member 3, 21

N. diseases: 84; N. variants: 25

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909182

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs121909183

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs121909184

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs28936691

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

GeneticVariation

UNIPROT

ABCA3 gene mutations in newborns with fatal surfactant deficiency.

15044640

2004

dbSNP:

rs121909182

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909183

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909184

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs28936691

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs2238464

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0005612
Disease:

Birth Weight

0.700

GeneticVariation

GWASCAT

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

31043758

2019

dbSNP:

rs45452892

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.700

CausalMutation

CLINVAR

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

29505158

2018

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.700

CausalMutation

CLINVAR

Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.

27374344

2016

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

24136335

2014

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

24871971

2014

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

24871971

2014

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

25553246

2014

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

24871971

2014

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).

25073622

2014

dbSNP:

rs876657633

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

TGG

0.700

GeneticVariation

CLINVAR

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

24871971

2014

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.700

CausalMutation

CLINVAR

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

22866751

2012

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.

22304854

2012

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

23166334

2012

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.

22800827

2012

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C0085786
Disease:

Hamman-Rich syndrome

0.700

GeneticVariation

CLINVAR

Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger.

22435821

2012

dbSNP:

rs149989682

Entrez Id:	21
Gene Symbol:	ABCA3

ABCA3

CUI:	C1970456
Disease:

Surfactant Metabolism Dysfunction, Pulmonary, 3

0.700

CausalMutation

CLINVAR

Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.

22434821

2012