eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acute respiratory distress syndrome | ||||
| Disease ID | 263 |
|---|---|
| Disease | acute respiratory distress syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:21) C2364133 | infection C1963220 | pulmonary hypertension C1963215 | pneumothorax C1963138 | hypertension C0949083 | nosocomial pneumonia C0948600 | organ failure C0857846 | legionella pneumophila pneumonia C0851886 | pneumocystis carinii infection C0748168 | pulmonary pathology C0700323 | neuromuscular blockade C0242459 | acute eosinophilic pneumonia C0235527 | right ventricular failure C0155672 | acute cor pulmonale C0041321 | miliary tuberculosis C0034063 | pulmonary edema C0032285 | pneumonia C0027849 | neuroleptic malignant syndrome C0026848 | myopathy C0020440 | hypercapnia C0016522 | patent foramen ovale C0012739 | disseminated intravascular coagulation |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0032285 | pneumonia | 15 C0948600 | organ failure | 7 C0041321 | miliary tuberculosis | 6 C0034063 | pulmonary edema | 4 C0009450 | infection | 4 C0020542 | pulmonary hypertension | 3 C0020538 | hypertension | 3 C0036690 | sepsis | 1 C0020440 | hypercapnia | 1 C0235527 | right ventricular failure | 1 C0949083 | nosocomial pneumonia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:27) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1051931 | 19583678 | 7941 | PLA2G7 | umls:C0035222 | BeFree | We sought to determine whether allelic variants in the human PAFAH gene (Arg92His, Ile198Thr, and Ala379Val) contribute to variability in PAF-AH activity in patient plasma obtained within 72 h of ARDS diagnosis. | 0.002909916 | 2009 | PLA2G7 | 6 | 46705206 | A | G |
| rs1059046 | 24950659 | 729238 | SFTPA2 | umls:C0035222 | 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. | 0.005428837 | 2014 | SFTPA2 | 10 | 79559458 | G | T,C |
| rs1130866 | 17142161 | 6439 | SFTPB | umls:C0035222 | BeFree | The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. | 0.026351063 | 2006 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 11076040 | 6439 | SFTPB | umls:C0035222 | BeFree | Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. | 0.026351063 | 2000 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 17142161 | 729238 | SFTPA2 | umls:C0035222 | BeFree | The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. | 0.005428837 | 2006 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 17142161 | 653509 | SFTPA1 | umls:C0035222 | BeFree | The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. | 0.005428837 | 2006 | SFTPB | 2 | 85666618 | G | A |
| rs1130866 | 11076040 | 6441 | SFTPD | umls:C0035222 | BeFree | Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. | 0.004353001 | 2000 | SFTPB | 2 | 85666618 | G | A |
| rs149989682 | 22145626 | 21 | ABCA3 | umls:C0035222 | 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. | 0.002714419 | 2012 | ABCA3 | 16 | 2317763 | T | A,C |
| rs1799983 | 23359565 | 4846 | NOS3 | umls:C0035222 | BeFree | Endothelial NOS gene Glu298Asp polymorphism in preterm neonates with respiratory distress syndrome. | 0.002638474 | 2012 | NOS3 | 7 | 150999023 | T | G |
| rs1805017 | 19583678 | 7941 | PLA2G7 | umls:C0035222 | BeFree | We sought to determine whether allelic variants in the human PAFAH gene (Arg92His, Ile198Thr, and Ala379Val) contribute to variability in PAF-AH activity in patient plasma obtained within 72 h of ARDS diagnosis. | 0.002909916 | 2009 | PLA2G7 | 6 | 46716485 | C | T |
| rs1805018 | 19583678 | 7941 | PLA2G7 | umls:C0035222 | BeFree | We sought to determine whether allelic variants in the human PAFAH gene (Arg92His, Ile198Thr, and Ala379Val) contribute to variability in PAF-AH activity in patient plasma obtained within 72 h of ARDS diagnosis. | 0.002909916 | 2009 | PLA2G7 | 6 | 46711566 | A | G |
| rs1965708 | 24950659 | 729238 | SFTPA2 | umls:C0035222 | 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. | 0.005428837 | 2014 | SFTPA2 | 10 | 79557289 | G | T |
| rs2664581 | 19251943 | 9001 | HAP1 | umls:C0035222 | BeFree | The common haplotype Hap2 (TTC), containing the variant allele of rs2664581, was also identified as a risk haplotype for ARDS (OR, 1.31; 95% CI, 1.05-1.64; P = 0.015). | 0.000271442 | 2009 | PI3 | 20 | 45175881 | A | C |
| rs28451617 | 22445700 | 1577 | CYP3A5 | umls:C0035222 | BeFree | Multivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6). | 0.000271442 | 2012 | CYP3A7;ZSCAN25;CYP3A7-CYP3A51P | 7 | 99735142 | C | T |
| rs28451617 | 22445700 | 115 | ADCY9 | umls:C0035222 | BeFree | Multivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6). | 0.000271442 | 2012 | CYP3A7;ZSCAN25;CYP3A7-CYP3A51P | 7 | 99735142 | C | T |
| rs315952 | 25089931 | 3557 | IL1RN | umls:C0035222 | BeFree | We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist gene (IL1RN), rs315952, previously associated with reduced risk for acute respiratory distress syndrome, would be functional and associate with improved survival in septic shock. | 0.083181358 | 2014 | IL1RN | 2 | 113132727 | T | A,C |
| rs315952 | 25089931 | 3552 | IL1A | umls:C0035222 | BeFree | We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist gene (IL1RN), rs315952, previously associated with reduced risk for acute respiratory distress syndrome, would be functional and associate with improved survival in septic shock. | 0.001628651 | 2014 | IL1RN | 2 | 113132727 | T | A,C |
| rs3848719 | 25372662 | 63925 | ZNF335 | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000271442 | 2014 | ZNF335 | 20 | 45967906 | G | A |
| rs3848719 | 25372662 | 414 | ARSD | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000542884 | 2014 | ZNF335 | 20 | 45967906 | G | A |
| rs3848719 | 25372662 | 150165 | XKR3 | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000271442 | 2014 | ZNF335 | 20 | 45967906 | G | A |
| rs61330082 | 23251429 | 10135 | NAMPT | umls:C0035222 | BeFree | In a sensitivity analysis limiting ALI cases to those who qualified for the Acute Respiratory Distress Syndrome (ARDS), rs61330082 in NAMPT was nominally associated with risk for ARDS. | 0.000814326 | 2012 | NAMPT | 7 | 106286419 | G | A |
| rs78142040 | 25372662 | 414 | ARSD | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000542884 | 2014 | ARSD | X | 2914730 | C | T |
| rs78142040 | 25372662 | 150165 | XKR3 | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000271442 | 2014 | ARSD | X | 2914730 | C | T |
| rs78142040 | 25372662 | 63925 | ZNF335 | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000271442 | 2014 | ARSD | X | 2914730 | C | T |
| rs9605146 | 25372662 | 150165 | XKR3 | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000271442 | 2014 | XKR3 | 22 | 16784304 | G | A |
| rs9605146 | 25372662 | 414 | ARSD | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000542884 | 2014 | XKR3 | 22 | 16784304 | G | A |
| rs9605146 | 25372662 | 63925 | ZNF335 | umls:C0035222 | BeFree | We validated three SNPs (rs78142040, rs9605146 and rs3848719) in additional ARDS patients to substantiate their associations with susceptibility, severity and outcome of ARDS. rs78142040 (C>T) occurs within a histone mark (intron 6) of the Arylsulfatase D gene. rs9605146 (G>A) causes a deleterious coding change (proline to leucine) in the XK, Kell blood group complex subunit-related family, member 3 gene. rs3848719 (G>A) is a synonymous SNP in the Zinc-Finger/Leucine-Zipper Co-Transducer NIF1 gene. rs78142040, rs9605146, and rs3848719 are associated significantly with susceptibility to ARDS. rs3848719 is associated with APACHE II score quartile. rs78142040 is associated with 60-day mortality in the overall ARDS patient population. | 0.000271442 | 2014 | XKR3 | 22 | 16784304 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 263 |
|---|---|
| Disease | acute respiratory distress syndrome |
| Case | (Waiting for update.) |