×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
29505158
2018
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
GeneticVariation
disease
CLINVAR
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
22304854
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
GeneticVariation
disease
CLINVAR
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
24871971
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
GeneticVariation
disease
CLINVAR
ABCA3 mutations associated with pediatric interstitial lung disease.
15976379
2005
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
18676873
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
23166334
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
24871971
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
Biomarker
disease
GENOMICS_ENGLAND
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
17719949
2007
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
Biomarker
disease
GENOMICS_ENGLAND
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
25553246
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
GeneticVariation
disease
UNIPROT
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
15044640
2004
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
22304854
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
GermlineCausalMutation
disease
ORPHANET
Surfactant dysfunction.
22018035
2011
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
22434821
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
ABCA3 mutations associated with pediatric interstitial lung disease.
15976379
2005
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
27374344
2016
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
22866751
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
GeneticVariation
disease
CLINVAR
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
18317237
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.700
CausalMutation
disease
CLINVAR
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
18317237
2008