eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pulmonary alveolar proteinosis | ||||
| Disease ID | 736 |
|---|---|
| Disease | pulmonary alveolar proteinosis |
| Definition | A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR. |
| Synonym | alveolar proteinoses pulm alveolar proteinoses, pulmonary alveolar proteinosis alveolar proteinosis pulm alveolar proteinosis, pulmonary lung, alveolar proteinosis pap - pulmonary alveolar proteinosis proteinoses pulm alveolar proteinoses, pulmonary alveolar proteinosis alveolar proteinosis pulm alveolar proteinosis, pulmonary alveolar pul alveolar proteinosis pulm alveolar proteinoses pulm alveolar proteinosis pulmonary alveolar proteinoses pulmonary alveolar proteinosis (disorder) pulmonary alveolar proteinosis [disease/finding] |
| DOID | |
| ICD10 | |
| UMLS | C0034050 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:21) C1145670 | respiratory failure | 3 C0041296 | tuberculosis | 2 C0032273 | pneumoconiosis | 2 C0024115 | lung disease | 1 C0006142 | breast cancer | 1 C0042769 | virus infection | 1 C0032298 | lipoid pneumonia | 1 C0041327 | pulmonary tuberculosis | 1 C0002876 | congenital dyserythropoietic anemia | 1 C0004623 | bacterial infection | 1 C0037116 | silicosis | 1 C0032285 | pneumonia | 1 C0684249 | lung carcinoma | 1 C0026986 | myelodysplastic syndrome | 1 C0268124 | ada deficiency | 1 C0242379 | lung cancer | 1 C0268124 | adenosine deaminase deficiency | 1 C0004623 | bacterial infections | 1 C0001175 | acquired immunodeficiency syndrome | 1 C0149925 | small cell lung carcinoma | 1 C0002390 | hypersensitivity pneumonitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 19 | ABCA1 | 1.629 | DISEASES 9619 | ABCG1 | 3.538 | DISEASES 30 | ACAA1 | 1.865 | DISEASES 84890 | ADO | 1.059 | DISEASES 6355 | CCL8 | 1.223 | DISEASES 959 | CD40LG | 1.518 | DISEASES 1012 | CDH13 | 1.02 | DISEASES 29965 | CDIP1 | 2.525 | DISEASES 55835 | CENPJ | 2.02 | DISEASES 64109 | CRLF2 | 1.345 | DISEASES 1435 | CSF1 | 2.167 | DISEASES 1438 | CSF2RA | 5.456 | DISEASES 1439 | CSF2RB | 4.348 | DISEASES 2624 | GATA2 | 3.958 | DISEASES 89781 | HPS4 | 2.135 | DISEASES 23308 | ICOSLG | 1.282 | DISEASES 3586 | IL10 | 1.303 | DISEASES 3605 | IL17A | 1.744 | DISEASES 3665 | IRF7 | 1.006 | DISEASES 3684 | ITGAM | 1.072 | DISEASES 4582 | MUC1 | 4.157 | DISEASES 727897 | MUC5B | 1.328 | DISEASES 10577 | NPC2 | 1.53 | DISEASES 10062 | NR1H3 | 1.353 | DISEASES 56963 | RGMA | 1.333 | DISEASES 5265 | SERPINA1 | 1.052 | DISEASES 653509 | SFTPA1 | 3.844 | DISEASES 729238 | SFTPA2 | 3.637 | DISEASES 6439 | SFTPB | 4.858 | DISEASES 6441 | SFTPD | 4.251 | DISEASES 4891 | SLC11A2 | 1.075 | DISEASES 6776 | STAT5A | 2.847 | DISEASES 100134934 | TEN1 | 2.113 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 736 |
|---|---|
| Disease | pulmonary alveolar proteinosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0002878 | Respiratory failure | 3 HP:0002721 | Immunodeficiency | 1 HP:0012418 | Low blood oxygen level | 1 HP:0006515 | Interstitial pneumonitis | 1 HP:0004810 | Congenital hypoplastic anemia | 1 HP:0006516 | Hypersensitivity pneumonitis | 1 HP:0003002 | Breast carcinoma | 1 HP:0030357 | Small cell lung carcinoma | 1 HP:0010972 | Anemia of inadequate production | 1 HP:0002664 | Neoplasia | 1 HP:0002863 | Myelodysplastic syndrome | 1 HP:0002958 | Immune dysregulation | 1 HP:0002206 | Pulmonary fibrosis | 1 HP:0002090 | Pneumonia | 1 |
| Disease ID | 736 |
|---|---|
| Disease | pulmonary alveolar proteinosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) C1145670 | respiratory failure | 3 C0024115 | lung disease | 1 C0026986 | myelodysplastic syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs141340466 | NA | 4141 | MARS | umls:C0034050 | CLINVAR | NA | 0.120271442 | NA | MARS | 12 | 57500406 | G | A |
| rs143592405 | NA | 4141 | MARS | umls:C0034050 | CLINVAR | NA | 0.120271442 | NA | MARS;MIR6758 | 12 | 57512300 | C | T |
| rs756021768 | NA | 4141 | MARS | umls:C0034050 | CLINVAR | NA | 0.120271442 | NA | MARS;MIR6758 | 12 | 57512811 | A | G,T |
| rs766466297 | NA | 4141 | MARS | umls:C0034050 | CLINVAR | NA | 0.120271442 | NA | MARS | 12 | 57498563 | A | G |
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 | 736 |
|---|---|
| Disease | pulmonary alveolar proteinosis |
| Case | (Waiting for update.) |