eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| desquamative interstitial pneumonia | ||||
| Disease ID | 700 |
|---|---|
| Disease | desquamative interstitial pneumonia |
| Definition | A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. |
| Synonym | desquamative interstitial pneumonia (dip) desquamative interstitial pneumonia (disorder) desquamative interstitial pneumonitis desquamatv interst pneu dip - desquamative interstitial pneumonitis ild, desquamative interstitial lung disease, desquamative interstitial pneumonitis, desquamative, familial pneumonia, desquamative interstitial pneumonia, desquamative interstitial, familial pneumonitis, desquamative interstitial, familial rbild resp brncio interst lung respiratory bronchiolitis interstitial lung disease |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0238378 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 444 | ASPH | 2.411 | DISEASES 820 | CAMP | 1.314 | DISEASES 100289462 | DEFB4B | 2.647 | DISEASES 3309 | HSPA5 | 1.945 | DISEASES 3652 | IPP | 2.422 | DISEASES 987 | LRBA | 2.127 | DISEASES 4204 | MECP2 | 2.154 | DISEASES 727897 | MUC5B | 3.616 | DISEASES 4914 | NTRK1 | 1.301 | DISEASES 4916 | NTRK3 | 1.809 | DISEASES 100128731 | OST4 | 4.109 | DISEASES 6441 | SFTPD | 1.827 | DISEASES 7124 | TNF | 1.167 | DISEASES 7295 | TXN | 1.386 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 700 |
|---|---|
| Disease | desquamative interstitial pneumonia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 700 |
|---|---|
| Disease | desquamative interstitial pneumonia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs4680 | 24708432 | 6531 | SLC6A3 | umls:C0238378 | BeFree | However, neither allele frequencies of COMT Val158Met nor allele frequencies of DAT1 3'-UTR VNTR were associated with DIP. | 0.000271442 | 2015 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 24708432 | 1312 | COMT | umls:C0238378 | BeFree | However, neither allele frequencies of COMT Val158Met nor allele frequencies of DAT1 3'-UTR VNTR were associated with DIP. | 0.000271442 | 2015 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 24708432 | 55885 | LMO3 | umls:C0238378 | BeFree | However, neither allele frequencies of COMT Val158Met nor allele frequencies of DAT1 3'-UTR VNTR were associated with DIP. | 0.000271442 | 2015 | COMT;MIR4761 | 22 | 19963748 | 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 | 700 |
|---|---|
| Disease | desquamative interstitial pneumonia |
| Case | (Waiting for update.) |