eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| siderosis | ||||
| Disease ID | 898 |
|---|---|
| Disease | siderosis |
| Definition | A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes. |
| Synonym | arc-welders' disease arc-welders' lung arc-welders' nodulation arc-welders' pneumoconiosis iron oxide lung iron pneumoconiosis pneumoconiosis siderotico pulmonary siderosis pulmonary siderosis (disorder) sideroses siderosis [disease/finding] siderotic lung disease steel grinders' disease welders' lung welders' siderosis |
| DOID | |
| ICD10 | |
| UMLS | C0037061 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0085220 | cerebral amyloid angiopathy | 8 C0039730 | thalassemia | 6 C0039730 | thalassaemia | 2 C0042373 | angiopathy | 2 C0023895 | liver disease | 2 C0018801 | heart failure | 2 C0019114 | hemosiderosis | 1 C0206062 | interstitial lung disease | 1 C1959589 | cavernous angioma | 1 C0004134 | ataxia | 1 C0018784 | sensorineural hearing loss | 1 C0238377 | talcosis | 1 C0018916 | angioma | 1 C0007758 | cerebellar ataxia | 1 C0024115 | lung disease | 1 C0019158 | hepatitis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 10142 | AKAP9 | 2.179 | DISEASES 212 | ALAS2 | 1.683 | DISEASES 408 | ARRB1 | 1.391 | DISEASES 79886 | CAAP1 | 2.838 | DISEASES 9244 | CRLF1 | 2.415 | DISEASES 2035 | EPB41 | 1.345 | DISEASES 2628 | GATM | 1.672 | DISEASES 3043 | HBB | 5.372 | DISEASES 9843 | HEPH | 2.872 | DISEASES 3077 | HFE | 5.218 | DISEASES 148738 | HFE2 | 3.171 | DISEASES 3486 | IGFBP3 | 1.008 | DISEASES 23210 | JMJD6 | 1.513 | DISEASES 9735 | KNTC1 | 1.447 | DISEASES 57134 | MAN1C1 | 2.287 | DISEASES 8260 | NAA10 | 1.801 | DISEASES 4835 | NQO2 | 2.08 | DISEASES 5158 | PDE6B | 1.162 | DISEASES 5817 | PVR | 2.439 | DISEASES 6014 | RIT2 | 1.092 | DISEASES 5265 | SERPINA1 | 2.031 | DISEASES 4891 | SLC11A2 | 1.443 | DISEASES 10166 | SLC25A15 | 2.068 | DISEASES 3177 | SLC29A2 | 1.979 | DISEASES 83650 | SLC35G5 | 1.408 | DISEASES 54790 | TET2 | 2.459 | DISEASES 7018 | TF | 5.281 | DISEASES 7037 | TFRC | 2.647 | DISEASES 164656 | TMPRSS6 | 1.6 | DISEASES 58476 | TP53INP2 | 2.689 | DISEASES 7390 | UROS | 2.547 | DISEASES 56897 | WRNIP1 | 2.362 | DISEASES 10897 | YIF1A | 3.297 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 898 |
|---|---|
| Disease | siderosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0011970 | Cerebral amyloid angiopathy | 8 HP:0001635 | Congestive heart failure | 3 HP:0001397 | Hepatic steatosis | 2 HP:0002073 | Cerebellar ataxia, progressive | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0008619 | Bilateral sensorineural hearing impairment | 1 HP:0000458 | Anosmia | 1 HP:0006530 | Interstitial lung disease | 1 HP:0001048 | Cavernous angioma | 1 HP:0012115 | Liver inflammation | 1 HP:0000408 | Bilateral progressive sensorineural hearing loss | 1 HP:0001251 | Ataxia | 1 HP:0100543 | Cognitive deficits | 1 HP:0002138 | Subarachnoid hemorrhage | 1 |
| Disease ID | 898 |
|---|---|
| Disease | siderosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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 |
| rs1799945 | 20739079 | 3077 | HFE | umls:C0037061 | BeFree | Heterozygosity for the C282Y (OR 1.87, 95% CI 1.04-3.25), homozygosity for the H63D HFE (OR 2.31, 95% CI 1.04-4) mutations, and the beta-thalassemia trait (OR 2.57 95% CI 1.49-4.47) were all predominantly associated with parenchymal siderosis, independently of age, sex, body mass index, alcohol intake, ferritin, and transferrin saturation. | 0.006905599 | 2010 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 20739079 | 3077 | HFE | umls:C0037061 | BeFree | Heterozygosity for the C282Y (OR 1.87, 95% CI 1.04-3.25), homozygosity for the H63D HFE (OR 2.31, 95% CI 1.04-4) mutations, and the beta-thalassemia trait (OR 2.57 95% CI 1.49-4.47) were all predominantly associated with parenchymal siderosis, independently of age, sex, body mass index, alcohol intake, ferritin, and transferrin saturation. | 0.006905599 | 2010 | HFE | 6 | 26092913 | 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) |
|---|
| (Waiting for update.) |
| Disease ID | 898 |
|---|---|
| Disease | siderosis |
| Case | (Waiting for update.) |