eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| respiratory failure | ||||
| Disease ID | 1483 |
|---|---|
| Disease | respiratory failure |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:49) C2712333 | agitation C2364133 | infection C2364050 | hypothermia C1963215 | pneumothorax C1963101 | encephalopathy C1839611 | n syndrome C1701940 | ventilator-associated pneumonia C1555769 | pulmonary disease C1393529 | vascular complications C1167782 | lung hyperinflation C1000483 | anemia C0948600 | organ failure C0796184 | toriello-carey syndrome C0752303 | urological manifestations C0733682 | x-linked hypophosphatemic rickets C0600502 | hemostatic disorders C0476273 | respiratory distress C0339976 | measles pneumonia C0276340 | respiratory syncytial virus bronchiolitis C0271791 | severe hypothyroidism C0264372 | bronchiolectasis C0242676 | intrinsic peep C0238132 | bronchopleural fistula C0235896 | pulmonary infiltrates C0234428 | consciousness disturbance C0178703 | hypertrophic osteoarthropathy C0155288 | papilloedema C0149877 | hypoglycaemic encephalopathy C0035243 | respiratory tract infections C0034372 | quadriplegia C0034069 | pulmonary fibrosis C0034067 | pulmonary emphysema C0034065 | pulmonary embolism C0034065 | pulmonary emboli C0034063 | pulmonary edema C0032285 | pneumonia C0024117 | chronic obstructive pulmonary disease C0024115 | pulmonary diseases C0024115 | lung disease C0023467 | acute myeloid leukemia C0022658 | renal disorders C0020676 | hypothyroidism C0020625 | hyponatremia C0020440 | hypercapnia C0018801 | heart failure C0015190 | euthyroid sick syndrome C0006285 | bronchopneumonia C0006266 | bronchospasm C0002736 | amyotrophic lateral sclerosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:27) C0032285 | pneumonia | 68 C0024115 | pulmonary disease | 36 C0024117 | chronic obstructive pulmonary disease | 34 C0009450 | infection | 21 C0024115 | lung disease | 12 C0476273 | respiratory distress | 11 C0034063 | pulmonary edema | 10 C0235896 | pulmonary infiltrates | 8 C0034069 | pulmonary fibrosis | 8 C0020440 | hypercapnia | 8 C0002736 | amyotrophic lateral sclerosis | 7 C0018801 | heart failure | 6 C1839611 | n syndrome | 5 C0948600 | organ failure | 4 C0006266 | bronchospasm | 4 C0085584 | encephalopathy | 3 C0035243 | respiratory tract infections | 2 C0006285 | bronchopneumonia | 1 C0020676 | hypothyroidism | 1 C0339976 | measles pneumonia | 1 C0032326 | pneumothorax | 1 C0024115 | pulmonary diseases | 1 C0034067 | pulmonary emphysema | 1 C0002871 | anemia | 1 C0276340 | respiratory syncytial virus bronchiolitis | 1 C0034372 | quadriplegia | 1 C0085631 | agitation | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs150516929 | 25208129 | 1410 | CRYAB | umls:C1145670 | BeFree | Moreover, we described for the first time respiratory insufficiency occurring in a patient with the p.Gly154Ser mutation in CRYAB. | 0.000271442 | 2014 | CRYAB | 11 | 111908832 | C | T |
| rs72466485 | 20437543 | 1639 | DCTN1 | umls:C1145670 | BeFree | Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. | 0.000271442 | 2010 | DCTN1 | 2 | 74378068 | C | T |
| rs80356733 | 18779421 | 23435 | TARDBP | umls:C1145670 | BeFree | We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment. | 0.000271442 | 2008 | TARDBP | 1 | 11022451 | G | T |
| rs80356734 | 18779421 | 23435 | TARDBP | umls:C1145670 | BeFree | We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment. | 0.000271442 | 2008 | TARDBP | 1 | 11022464 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1483 |
|---|---|
| Disease | respiratory failure |
| Case | (Waiting for update.) |