eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| intermediate uveitis | ||||
| Disease ID | 1007 |
|---|---|
| Disease | intermediate uveitis |
| Definition | Inflammation of the pars plana, ciliary body, and adjacent structures. |
| Synonym | chronic cyclitis chronic cyclitis (disorder) chronic posterior cyclitis cyclitis, chronic intermediate uveitis (disorder) iritis chronic peripheral uveitis peripheral uveoretinitis uveitis, intermediate uveitis, intermediate [disease/finding] |
| Orphanet | |
| DOID | |
| UMLS | C0042166 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0026769 | multiple sclerosis | 6 C0042164 | uveitis | 4 C0022073 | iridocyclitis | 2 C0014236 | endophthalmitis | 1 C0553662 | juvenile idiopathic arthritis | 1 C0271051 | macular edema | 1 C0042384 | vasculitis | 1 C0031069 | familial mediterranean fever | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 9560 | CCL4L2 | 1.754 | DISEASES 911 | CD1C | 1.138 | DISEASES 959 | CD40LG | 1.474 | DISEASES 1043 | CD52 | 1.111 | DISEASES 942 | CD86 | 1.15 | DISEASES 629 | CFB | 1.263 | DISEASES 23418 | CRB1 | 3.246 | DISEASES 2833 | CXCR3 | 1.151 | DISEASES 1810 | DR1 | 1.998 | DISEASES 6993 | DYNLT1 | 1.937 | DISEASES 953 | ENTPD1 | 1.333 | DISEASES 2189 | FANCG | 1.488 | DISEASES 3105 | HLA-A | 2.295 | DISEASES 3106 | HLA-B | 1.743 | DISEASES 3123 | HLA-DRB1 | 1.426 | DISEASES 3127 | HLA-DRB5 | 1.424 | DISEASES 3376 | IARS | 1.177 | DISEASES 3456 | IFNB1 | 2.129 | DISEASES 3586 | IL10 | 2.111 | DISEASES 3605 | IL17A | 2.25 | DISEASES 7850 | IL1R2 | 2.062 | DISEASES 50616 | IL22 | 1.359 | DISEASES 3559 | IL2RA | 1.859 | DISEASES 84946 | LTV1 | 3.387 | DISEASES 55777 | MBD5 | 2.043 | DISEASES 100507436 | MICA | 1.027 | DISEASES 7916 | PRRC2A | 2.546 | DISEASES 112476 | PRRT2 | 1.571 | DISEASES 6283 | S100A12 | 1.515 | DISEASES 6295 | SAG | 3.3 | DISEASES 55315 | SLC29A3 | 1.927 | DISEASES 7124 | TNF | 1.864 | DISEASES 7133 | TNFRSF1B | 2.347 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1007 |
|---|---|
| Disease | intermediate uveitis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000554 | Uveitis | 4 HP:0001094 | Iridocyclitis | 2 HP:0000518 | Cataract | 1 HP:0011531 | Hyalitis | 1 HP:0040049 | Macular edema | 1 HP:0005681 | Juvenile idiopathic arthritis | 1 HP:0002633 | Vasculitis | 1 |
| Disease ID | 1007 |
|---|---|
| Disease | intermediate uveitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0026769 | multiple sclerosis | 6 C0271051 | macular edema | 1 C0442893 | systemic disease | 1 C0031129 | periphlebitis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (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 |
| rs2104286 | 21911588 | 3559 | IL2RA | umls:C0042166 | BeFree | IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways? | 0.000271442 | 2011 | IL2RA | 10 | 6057082 | T | C |
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 | 1007 |
|---|---|
| Disease | intermediate uveitis |
| Case | (Waiting for update.) |