SFTPA2, surfactant protein A2, 729238

N. diseases: 111; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917737
rs121917737
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
0.800 GeneticVariation UNIPROT Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 19100526 2009
dbSNP: rs121917738
rs121917738
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
0.800 GeneticVariation UNIPROT Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 19100526 2009
dbSNP: rs121917737
rs121917737
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
A 0.800 CausalMutation CLINVAR
dbSNP: rs121917738
rs121917738
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C1800706
Disease:
Idiopathic Pulmonary Fibrosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs1042689672
rs1042689672
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.030 GeneticVariation BEFREE The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. 17142161 2006
dbSNP: rs1042689672
rs1042689672
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.030 GeneticVariation BEFREE An association between the SP-B Ile131Thr polymorphism and RDS was found. 12483294 2003
dbSNP: rs1042689672
rs1042689672
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0035220
Disease:
Respiratory Distress Syndrome, Newborn
0.030 GeneticVariation BEFREE We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)). 11063734 2000
dbSNP: rs121917737
rs121917737
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Surfactant protein A2 mutations (G231V and F198S) have been identified to be associated with pulmonary fibrosis and lung cancer, and these mutations cause protein aggregation, instability as well as secretion deficiency. 31546020 2019
dbSNP: rs121917737
rs121917737
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Surfactant protein A2 mutations (G231V and F198S) have been identified to be associated with pulmonary fibrosis and lung cancer, and these mutations cause protein aggregation, instability as well as secretion deficiency. 31546020 2019
dbSNP: rs121917737
rs121917737
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Surfactant protein A2 mutations (G231V and F198S) have been identified to be associated with pulmonary fibrosis and lung cancer, and these mutations cause protein aggregation, instability as well as secretion deficiency. 31546020 2019
dbSNP: rs121917738
rs121917738
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Surfactant protein A2 mutations (G231V and F198S) have been identified to be associated with pulmonary fibrosis and lung cancer, and these mutations cause protein aggregation, instability as well as secretion deficiency. 31546020 2019
dbSNP: rs121917738
rs121917738
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Surfactant protein A2 mutations (G231V and F198S) have been identified to be associated with pulmonary fibrosis and lung cancer, and these mutations cause protein aggregation, instability as well as secretion deficiency. 31546020 2019
dbSNP: rs121917738
rs121917738
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Surfactant protein A2 mutations (G231V and F198S) have been identified to be associated with pulmonary fibrosis and lung cancer, and these mutations cause protein aggregation, instability as well as secretion deficiency. 31546020 2019
dbSNP: rs121917737
rs121917737
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0034069
Disease:
Pulmonary Fibrosis
0.010 GeneticVariation BEFREE G231V and F198S mutations in surfactant protein A2 (SP-A2) are associated with familial pulmonary fibrosis. 30293573 2018
dbSNP: rs121917738
rs121917738
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0034069
Disease:
Pulmonary Fibrosis
0.010 GeneticVariation BEFREE G231V and F198S mutations in surfactant protein A2 (SP-A2) are associated with familial pulmonary fibrosis. 30293573 2018
dbSNP: rs17879335
rs17879335
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE The haplotype comprising rs17881720-A and rs17879335-G was a resistance factor while the haplotype comprising rs1914663-T and rs1059225-G was found to be a susceptibility factor to TB. 27012150 2016
dbSNP: rs17881720
rs17881720
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE The haplotype comprising rs17881720-A and rs17879335-G was a resistance factor while the haplotype comprising rs1914663-T and rs1059225-G was found to be a susceptibility factor to TB. 27012150 2016
dbSNP: rs1965708
rs1965708
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0024115
Disease:
Lung diseases
0.010 GeneticVariation BEFREE Humans express a repertoire of single-amino acid genetic variants of SP-A that may be associated with lung disease, and our findings demonstrate that allelic differences in SP-A2 (Gln223Lys) affect the binding to MMF. 25957169 2015
dbSNP: rs1965708
rs1965708
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0340100
Disease:
High altitude pulmonary edema
0.010 GeneticVariation BEFREE Statistical analyses of the genotype frequencies of the SNPs revealed significant differences in the ACE (rs4309), EGLN1 (rs480902), SP-A2 (rs1965708), HSP70 (rs1008438), PAI-1 (rs1799889), and NOS (rs199983) expressions between the HAPE and healthy control groups (P < 0.05); therefore, these SNP loci were believed to indicate HAPE susceptibility. 26436397 2015
dbSNP: rs1059046
rs1059046
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0748355
Disease:
Acute respiratory distress
0.010 GeneticVariation BEFREE Multivariate analysis showed that two frequent SFTPA2 missense alleles (rs1965708-C and rs1059046-A) and the SFTPA2 haplotype 1A(0) were associated with a need for mechanical ventilation, acute respiratory failure, and acute respiratory distress syndrome. 24950659 2014
dbSNP: rs1059046
rs1059046
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0035222
Disease:
Respiratory Distress Syndrome, Adult
0.010 GeneticVariation BEFREE Multivariate analysis showed that two frequent SFTPA2 missense alleles (rs1965708-C and rs1059046-A) and the SFTPA2 haplotype 1A(0) were associated with a need for mechanical ventilation, acute respiratory failure, and acute respiratory distress syndrome. 24950659 2014
dbSNP: rs1059046
rs1059046
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0264490
Disease:
Acute respiratory failure
0.010 GeneticVariation BEFREE Multivariate analysis showed that two frequent SFTPA2 missense alleles (rs1965708-C and rs1059046-A) and the SFTPA2 haplotype 1A(0) were associated with a need for mechanical ventilation, acute respiratory failure, and acute respiratory distress syndrome. 24950659 2014
dbSNP: rs1965708
rs1965708
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0748355
Disease:
Acute respiratory distress
0.010 GeneticVariation BEFREE Multivariate analysis showed that two frequent SFTPA2 missense alleles (rs1965708-C and rs1059046-A) and the SFTPA2 haplotype 1A(0) were associated with a need for mechanical ventilation, acute respiratory failure, and acute respiratory distress syndrome. 24950659 2014
dbSNP: rs1965708
rs1965708
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0035222
Disease:
Respiratory Distress Syndrome, Adult
0.010 GeneticVariation BEFREE Multivariate analysis showed that two frequent SFTPA2 missense alleles (rs1965708-C and rs1059046-A) and the SFTPA2 haplotype 1A(0) were associated with a need for mechanical ventilation, acute respiratory failure, and acute respiratory distress syndrome. 24950659 2014
dbSNP: rs1650232
rs1650232
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
CUI: C0035204
Disease:
Respiration Disorders
0.010 GeneticVariation BEFREE Validated as a regulatory variant, rs1650232 is in partial linkage disequilibrium with known SP-A2 marker SNPs previously associated with risk for respiratory diseases including tuberculosis. 23328842 2013