Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Mutations in the ABCA3 gene are an important genetic cause for respiratory distress syndrome in neonates and interstitial lung disease in children and adults, for which there is currently no cure. 29325094

2018

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Biallelic mutations of ABCA3 has been associated with fatal respiratory distress syndrome and interstitial lung disease (ILD) in children. 28642621

2017

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation ORPHANET Lung disease caused by ABCA3 mutations. 27516224

2017

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China. 26522252

2016

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Our objective was to functionally characterize two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome with unclear pathogenicity in a genetically versatile model system. 27374344

2016

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease. 26780485

2016

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 Biomarker BEFREE ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome. 24269975

2014

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome. 25031143

2014

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. 22145626

2012

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate. 22707629

2011

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 Biomarker BEFREE The results are suggestive of an association of a synonymous SNP in the ABCA3 gene with a prolonged course of respiratory distress syndrome in very premature infants and serve as a reference for further population-based studies of ABCA3. 18246475

2008

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene. 17429902

2007

Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
0.400 GeneticVariation BEFREE Our data provide evidence that ABCA3 mutations are associated not only with a deficiency of ABCA3 but also with an abnormal processing and routing of SP-B and SP-C, leading to severe alterations of surfactant homeostasis and respiratory distress syndrome. 16728712

2006