eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemosiderosis | ||||
| Disease ID | 1521 |
|---|---|
| Disease | hemosiderosis |
| Definition | Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin. |
| Synonym | haemosiderosis haemosiderosis nos haemosiderosis, nos hemosideroses hemosiderosis (disorder) hemosiderosis [disease/finding] hemosiderosis nos hemosiderosis nos (disorder) hemosiderosis, nos |
| DOID | |
| UMLS | C0019114 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0007570 | celiac disease | 4 C0002871 | anemia | 3 C0039730 | thalassemia | 2 C0085220 | cerebral amyloid angiopathy | 2 C0042373 | angiopathy | 1 C0023895 | liver disease | 1 C0035078 | renal failure | 1 C0024115 | lung disease | 1 C0008370 | cholestasis | 1 C0282193 | iron overload | 1 C0007570 | coeliac disease | 1 C0035229 | respiratory insufficiency | 1 C0852949 | arteriopathy | 1 C0878544 | cardiomyopathy | 1 C0018799 | cardiac disease | 1 C0155877 | allergic asthma | 1 C0006287 | bronchopulmonary dysplasia | 1 C0005283 | beta thalassemia | 1 C0019045 | hemoglobinopathies | 1 C0042373 | vascular disease | 1 C0271623 | secondary hypogonadism | 1 C0026269 | mitral stenosis | 1 C0035439 | rheumatic heart disease | 1 C0004096 | asthma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 84890 | ADO | 1.487 | DISEASES 57016 | AKR1B10 | 1.617 | DISEASES 617 | BCS1L | 2.276 | DISEASES 846 | CASR | 1.994 | DISEASES 959 | CD40LG | 1.592 | DISEASES 146059 | CDAN1 | 2.213 | DISEASES 7122 | CLDN5 | 1.206 | DISEASES 57703 | CWC22 | 1.732 | DISEASES 8813 | DPM1 | 1.399 | DISEASES 1908 | EDN3 | 1.119 | DISEASES 10938 | EHD1 | 1.592 | DISEASES 2053 | EPHX2 | 1.661 | DISEASES 10447 | FAM3C | 2.704 | DISEASES 2512 | FTL | 1.712 | DISEASES 3043 | HBB | 5.118 | DISEASES 9843 | HEPH | 2.063 | DISEASES 3077 | HFE | 2.58 | DISEASES 3240 | HP | 1.744 | DISEASES 3892 | KRT86 | 3.428 | DISEASES 4700 | NDUFA6 | 1.9 | DISEASES 23762 | OSBP2 | 2.422 | DISEASES 5313 | PKLR | 1.93 | DISEASES 6005 | RHAG | 1.589 | DISEASES 6014 | RIT2 | 1.241 | DISEASES 6439 | SFTPB | 1.446 | DISEASES 4891 | SLC11A2 | 1.9 | DISEASES 6708 | SPTA1 | 1.26 | DISEASES 54790 | TET2 | 3.597 | DISEASES 7018 | TF | 4.409 | DISEASES 7037 | TFRC | 1.645 | DISEASES 7100 | TLR5 | 1.112 | DISEASES 7138 | TNNT1 | 1.023 | DISEASES 51366 | UBR5 | 2.616 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1521 |
|---|---|
| Disease | hemosiderosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002608 | Celiac disease | 4 HP:0001903 | Anemia | 3 HP:0011970 | Cerebral amyloid angiopathy | 2 HP:0001718 | Mitral stenosis | 1 HP:0002099 | Asthma | 1 HP:0000083 | Renal insufficiency | 1 HP:0001369 | Arthritis | 1 HP:0007902 | Vitreous hemorrhage | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001396 | Cholestasis | 1 HP:0005681 | Juvenile idiopathic arthritis | 1 HP:0005505 | Refractory anemia | 1 HP:0002093 | progressive respiratory failure | 1 |
| Disease ID | 1521 |
|---|---|
| Disease | hemosiderosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1799945 | 11473464 | 3077 | HFE | umls:C0019114 | BeFree | The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed. | 0.002909916 | 2001 | HFE | 6 | 26090951 | C | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1521 |
|---|---|
| Disease | hemosiderosis |
| Case | (Waiting for update.) |