PedAM
Pediatric Disease Annotations & Medicines
| uveitis | ||||
| Disease ID | 122 |
|---|---|
| Disease | uveitis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:74) C2707258 | infections C2697310 | sarcoidosis C2678504 | osteoporosis C2364133 | infection C2243086 | basal cell adenocarcinoma C2096315 | headache C2029884 | hearing loss C1998028 | photoreceptor degeneration C1963229 | retinal detachment C1962986 | glaucoma C1962983 | cataract C1843274 | acute tubulointerstitial nephritis C1611280 | allergy C1546654 | granuloma C1417325 | multiple sclerosis C1373218 | immunosuppression C1363843 | retinal vascular changes C1306068 | secondary cataract C1302690 | retinal thickening C1096278 | anterior chamber inflammation C0852949 | arteriopathy C0796095 | c syndrome C0730362 | maculopathy C0730345 | microalbuminuria C0729552 | genital infection C0700109 | rigidity C0595921 | intraocular pressure C0456909 | blindness C0442893 | systemic disease C0426768 | o sign C0343029 | tuberculids C0271215 | legal blindness C0271051 | macular oedema C0271051 | macular edema C0268780 | idiopathic acute interstitial nephritis C0241910 | autoimmune hepatitis C0238036 | bronchocentric granulomatosis C0221262 | poliosis C0162835 | depigmentation C0155288 | papilledema C0155118 | corneal degeneration C0152259 | complicated cataract C0152259 | cataracta complicata C0152253 | posterior synechiae C0149937 | acute interstitial nephritis C0149893 | secondary glaucoma C0086543 | cataracts C0042164 | intraocular inflammation C0041349 | tubulointerstitial nephritis C0041296 | tuberculosis C0040558 | toxoplasmosis C0040553 | toxocariasis C0036205 | pulmonary sarcoidosis C0035321 | retinal tears C0035321 | retinal tear C0035304 | retinal degeneration C0028840 | ocular hypertension C0027707 | interstitial nephritis C0027697 | nephritis C0024440 | cystoid macular oedema C0024440 | cystoid macular edema C0023316 | lens subluxation C0022568 | keratitis C0021053 | immunity disorders C0020097 | htlv-i C0019625 | rosai-dorfman disease C0017609 | neovascular glaucoma C0017601 | glaucomas C0015397 | eye disease C0014070 | encephalomyelitis C0010037 | corneal edema C0006035 | borreliosis C0004364 | autoimmune disease C0003864 | arthritis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:42) C0003864 | arthritis | 30 C0086543 | cataract | 28 C0017601 | glaucoma | 27 C0036202 | sarcoidosis | 21 C0149893 | secondary glaucoma | 15 C0442893 | systemic disease | 14 C0009450 | infection | 12 C0026769 | multiple sclerosis | 11 C0271051 | macular edema | 10 C0027707 | interstitial nephritis | 10 C0021888 | intraocular pressure | 10 C0027697 | nephritis | 9 C0041349 | tubulointerstitial nephritis | 9 C0041296 | tuberculosis | 7 C0426768 | o sign | 7 C0021311 | infections | 7 C0022568 | keratitis | 6 C0035305 | retinal detachment | 5 C0152253 | posterior synechiae | 5 C0004364 | autoimmune disease | 4 C0456909 | blindness | 4 C0040558 | toxoplasmosis | 4 C0086543 | cataracts | 4 C0028840 | ocular hypertension | 3 C0152259 | complicated cataract | 3 C0162835 | depigmentation | 2 C0024440 | cystoid macular edema | 2 C0042164 | intraocular inflammation | 2 C0796095 | c syndrome | 2 C1096278 | anterior chamber inflammation | 2 C0010037 | corneal edema | 1 C0018188 | granuloma | 1 C0002111 | allergy | 1 C0271051 | macular oedema | 1 C0018681 | headache | 1 C0730362 | maculopathy | 1 C0017601 | glaucomas | 1 C0021079 | immunosuppression | 1 C1843274 | acute tubulointerstitial nephritis | 1 C0149937 | acute interstitial nephritis | 1 C0036205 | pulmonary sarcoidosis | 1 C0241910 | autoimmune hepatitis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1061170 | 23497844 | 3075 | CFH | umls:C0042164 | BeFree | Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis. | 0.000542884 | 2013 | CFH | 1 | 196690107 | C | T |
| rs1065489 | 23966370 | 3075 | CFH | umls:C0042164 | BeFree | This study revealed an association of CFH-rs1065489 with AU as well as uveitis recurrence frequency. | 0.000542884 | 2013 | CFH | 1 | 196740644 | G | T |
| rs10954213 | 24116155 | 3663 | IRF5 | umls:C0042164 | BeFree | Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients. | 0.000271442 | 2013 | IRF5 | 7 | 128949373 | G | A |
| rs17095830 | 23308121 | 8213 | BAS | umls:C0042164 | BeFree | The correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830. | 0.000271442 | 2013 | ANO6;LOC105369743 | 12 | 45381125 | A | G |
| rs1799969 | 20445114 | 3383 | ICAM1 | umls:C0042164 | BeFree | G/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated with Fuchs uveitis. | 0.080542884 | 2010 | ICAM1;LOC105372272 | 19 | 10284116 | G | A |
| rs2004640 | 24116155 | 3663 | IRF5 | umls:C0042164 | BeFree | Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients. | 0.000271442 | 2013 | IRF5 | 7 | 128938247 | T | G |
| rs2075800 | 17591867 | 3305 | HSPA1L | umls:C0042164 | BeFree | A strong association was found between HSP-70/Hom rs2075800 G and uveitis in patients with sarcoidosis. | 0.000271442 | 2007 | HSPA1L | 6 | 31810169 | C | T |
| rs2222202 | 20335604 | 3586 | IL10 | umls:C0042164 | BeFree | The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490). | 0.007177041 | 2010 | IL10 | 1 | 206772036 | G | A |
| rs3024490 | 20335604 | 3586 | IL10 | umls:C0042164 | BeFree | The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490). | 0.007177041 | 2010 | IL10 | 1 | 206771966 | A | C |
| rs361525 | 20335604 | 7124 | TNF | umls:C0042164 | GAD | [The role of 12 polymorphisms spanning the TNFA and IL10 genomic regions was investigated in 192 uveitis patients and 92 population control subjects from four regional centers in the United Kingdom and Republic of Ireland.] | 0.092453989 | 2010 | TNF | 6 | 31575324 | G | A |
| rs4552569 | 23308121 | 8213 | BAS | umls:C0042164 | BeFree | The correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830. | 0.000271442 | 2013 | NA | 5 | 83877774 | C | T |
| rs6703630 | 20335604 | 3586 | IL10 | umls:C0042164 | BeFree | The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490). | 0.007177041 | 2010 | IL10 | 1 | 206775294 | C | T |
| rs6703630 | 20335604 | 3586 | IL10 | umls:C0042164 | GAD | [The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490).] | 0.007177041 | 2010 | IL10 | 1 | 206775294 | C | T |
| rs909253 | 20335604 | 4049 | LTA | umls:C0042164 | GAD | [Since these variants are implicated in the susceptibility and severity of several immunologic disorders, the results support the hypothesis that common genetic determinants influence shared mechanisms of autoimmunity.] | 0.009468128 | 2010 | LTA;LOC100287329 | 6 | 31572536 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:2) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 5 | 96290647 | rs7705093 | C | T | rs7705093 | 24957906 | 2.00E-09 | NA | 2.2 | [1.70-2.90] | 117 European ancestry cases; 693 European ancestry controls | European(810) | ALL(810) | EUR(810) | ALL(810) | Birdshot chorioretinopathy | HPOID:0000554 | Uveitis | DOID:13141 | uveitis | NA | NA | NA | NA | NA | rs7705093-T | Research Support, N.I.H., Extramural | C | LNPEP |
| 14 | 102845867 | rs150571175 | G | A | rs150571175 | 24957906 | 2.00E-07 | NA | 4.6 | [2.60-8.30] | 117 European ancestry cases; 693 European ancestry controls | European(810) | ALL(810) | EUR(810) | ALL(810) | Birdshot chorioretinopathy | HPOID:0000554 | Uveitis | DOID:13141 | uveitis | NA | NA | NA | NA | NA | rs150571175-A | Research Support, N.I.H., Extramural | NA | TECPR2 |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:8) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0042164 | capsaicin | D002211 | 404-86-4 | uveitis | MESH:D014605 | marker/mechanism | 19553628 | ||
| C0042164 | cyclosporine | D016572 | 59865-13-3 | uveitis | MESH:D014605 | therapeutic | 1336536 | ||
| C0042164 | foscarnet | D017245 | 4428-95-9 | uveitis | MESH:D014605 | therapeutic | 9761526 | ||
| C0042164 | methotrexate | D008727 | 1959/5/2 | uveitis | MESH:D014605 | therapeutic | 18779714 | ||
| C0042164 | rifabutin | D017828 | 72559-06-9 | uveitis | MESH:D014605 | marker/mechanism | 9101573 | ||
| C0042164 | sirolimus | D020123 | 53123-88-9 | uveitis | MESH:D014605 | therapeutic | 1336536 | ||
| C0042164 | travoprost | D000069557 | - | uveitis | MESH:D014605 | therapeutic | 19403113 | ||
| C0042164 | trimethoprim | D014295 | 738-70-5 | uveitis | MESH:D014605 | marker/mechanism | 9228966 | ||
FDA approved drug and dosage information(Total Drugs:2) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D014605 | rapamune | sirolimus | 1MG/ML | SOLUTION;ORAL | Prescription | None | Yes | Yes |
| MESH:D014605 | rapamune | sirolimus | 1MG | TABLET;ORAL | Prescription | AB | Yes | No |
FDA labeling changes(Total Drugs:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D014605 | 11/3/2005 | rapamune | sirolimus | Prophylaxis of organ rejection in patients undergoing renal transplants | Safety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric ( | Labeling | B | - | - | - | Wyeth | 11/17/2004 | FALSE' |
| MESH:D014605 | 11/3/2005 | rapamune | sirolimus | Prophylaxis of organ rejection in patients undergoing renal transplants | Safety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric ( | Labeling | B | - | - | - | Wyeth | 11/17/2004 | FALSE' |