PedAM
Pediatric Disease Annotations & Medicines
| chronic beryllium disease | ||||
| Disease ID | 1605 |
|---|---|
| Disease | chronic beryllium disease |
| Synonym | berylliosis, chronic beryllium disease, chronic beryllium granuloma chronic berylliosis chronic berylliosis (disorder) chronic beryllium lung chronic beryllium lung disease chronic beryllium poisoning |
| Orphanet | |
| UMLS | C0221052 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) HLA-DPB1 | 6p21.32 |
| Disease ID | 1605 |
|---|---|
| Disease | chronic beryllium disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1605 |
|---|---|
| Disease | chronic beryllium disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs3117099 | 17927685 | 129831 | RBM45 | umls:C0221052 | BeFree | In conclusion, both DRB1*13 and rs3117099TT homozygosity are associated with CBD in *Glu69-negative subjects, while DPB1*Glu69 is associated with CBD and BeS compared with Be-exp. | 0.000542884 | 2007 | HCG23;LOC101929163 | 6 | 32390493 | G | A |
| rs3117099 | 17927685 | 3123 | HLA-DRB1 | umls:C0221052 | BeFree | In conclusion, both DRB1*13 and rs3117099TT homozygosity are associated with CBD in *Glu69-negative subjects, while DPB1*Glu69 is associated with CBD and BeS compared with Be-exp. | 0.001357209 | 2007 | HCG23;LOC101929163 | 6 | 32390493 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |