Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2
Gene Symbol: A2M
A2M
0.320 Biomarker group BEFREE The highest alpha 2-macroglobulin concentrations were found in the PI Q0 patients (5 with emphysema, 2 with no lung disease), and these patients had almost no circulating alpha 1-antitrypsin. 6189643 1983
Entrez Id: 2
Gene Symbol: A2M
A2M
0.320 Biomarker group BEFREE The patient is heterozygous for an alteration in the A2M gene; this may be responsible for his serum A2M deficiency and may be relevant to the early onset of pulmonary disease in his case. 2475424 1989
Entrez Id: 2
Gene Symbol: A2M
A2M
0.320 Biomarker group CTD_human The patient is heterozygous for an alteration in the A2M gene; this may be responsible for his serum A2M deficiency and may be relevant to the early onset of pulmonary disease in his case. 2475424 1989
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
0.010 Biomarker group BEFREE ABCA1, a member of the ATP-binding cassette family of active transporters, plays an essential role in the progression of lung diseases. 29775222 2018
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 Biomarker group BEFREE Mutations of genes affecting surfactant homeostasis, such as SFTPB, SFTPC and ABCA3, lead to diffuse lung disease in neonates and children. 21867529 2011
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. 27516224 2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE In conclusion, we classified cellular consequences of missense ABCA3 sequence variations leading to pulmonary disease of variable severity. 29505158 2018
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 Biomarker group BEFREE The segregation of ABCA3 alleles, absence of ABCA3 immunostaining, lung pathology, and ultrastructural findings support genetic ABCA3 deficiency as the cause of lung disease in these 2 infants, despite the lack of an identified genetic variant. 20304423 2010
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE Mutations within the ABCA3 gene may functionally impair the transporter, causing lung diseases in newborns, children and adults. 28887056 2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE ABCA3 mutations were the basis for lung disease in all three patients. 17429902 2007
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE Mutations in ABCA3 have been increasingly recognized as one of the causes of inherited pulmonary diseases. 28025703 2017
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE We identified 185 infants and children with homozygous or compound heterozygous ABCA3 mutations and lung disease. 24871971 2014
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE To test the hypothesis that ABCA3 mutations modify the severity of lung disease in individuals with SFTPC mutations, we sequenced ABCA3 from four symptomatic infants with the same SFTPC mutation, a substitution of isoleucine by threonine in codon 73 (I73T). 17597647 2007
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 Biomarker group BEFREE ABCA3 is critical for the proper formation of lamellar bodies and surfactant function and may also be important for lung function in other pulmonary diseases. 15044640 2004
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 Biomarker group BEFREE This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration. 26222203 2016
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE Immunohistochemical analysis of surfactant protein expression in three patients revealed a specific staining pattern for surfactant protein-B, which was the same pattern observed in several infants with fatal lung disease due to ABCA3 mutations. 15976379 2005
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 Biomarker group BEFREE ABCA3-specific cDNA was generated and sequenced from frozen lung tissue from a child with fatal lung disease with only one identified ABCA3 mutation. 22337229 2012
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease. 23846195 2014
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE Large ABCA3 and SFTPC deletions resulting in lung disease. 24024739 2013
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 GeneticVariation group BEFREE This review summarizes current knowledge concerning clinical, genetic, and pathologic features of the lung disease associated with mutations in the ABCA3 gene, and also briefly reviews some other forms of childhood interstitial lung diseases that have their antecedents in the neonatal period and may also have a genetic basis. 17142158 2006
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.100 Biomarker group BEFREE The preferentially type 2 cell expressed genes involved in critical functions (such as ATP-binding cassette transporter, ABCA3), those involved in susceptibility to acute lung damage, and those with known susceptibility to other severe lung diseases (such as G protein-coupled receptor for asthma susceptibility, GPR154 alias GPRA) will possibly serve as candidate genes in future studies. 17127271 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.010 Biomarker group BEFREE The preferentially type 2 cell expressed genes involved in critical functions (such as ATP-binding cassette transporter, ABCA3), those involved in susceptibility to acute lung damage, and those with known susceptibility to other severe lung diseases (such as G protein-coupled receptor for asthma susceptibility, GPR154 alias GPRA) will possibly serve as candidate genes in future studies. 17127271 2007
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
0.010 Biomarker group BEFREE These findings show that Notch1 and MRP1 might have a potential protective effect in the COPD process and become a new therapeutic target for COPD or other lung diseases. 31747319 2019
Entrez Id: 9619
Gene Symbol: ABCG1
ABCG1
0.020 Biomarker group BEFREE These findings document the existence of ABCG1 deficiency in human lung disease and highlight a critical role for ABCG1 in surfactant homeostasis. 17848583 2007
Entrez Id: 9619
Gene Symbol: ABCG1
ABCG1
0.020 Biomarker group BEFREE These results establish a critical role for T2 cell ABCG1 in controlling surfactant and overall lipid homeostasis in the lung and in the pathogenesis of human lung disease. 28264879 2017