PedAM
Pediatric Disease Annotations & Medicines
| epstein syndrome | ||||
| Disease ID | 1732 |
|---|---|
| Disease | epstein syndrome |
| Synonym | epstein syndrome (disorder) epstein's macrothrombocytopenia syndrome epstein's syndrome epstns macrothrombocytopenia, nephritis, and deafness |
| Orphanet | |
| OMIM | |
| UMLS | C0398641 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1732 |
|---|---|
| Disease | epstein syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:12) HP:0000093 | Proteinuria HP:0002239 | Gastrointestinal hemorrhage HP:0000123 | Nephritis HP:0003774 | End-stage renal failure HP:0000822 | Hypertension HP:0008619 | Bilateral sensorineural hearing impairment HP:0001873 | Low platelet count HP:0001902 | Giant platelets HP:0000518 | Cataract HP:0000421 | Bloody nose HP:0002907 | Microhematuria HP:0001757 | High frequency sensorineural hearing impairment |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1732 |
|---|---|
| Disease | epstein syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913657 | NA | 4627 | MYH9 | umls:C0398641 | CLINVAR | NA | 0.321357209 | NA | MYH9 | 22 | 36348950 | G | A |
| rs80338826 | NA | 4627 | MYH9 | umls:C0398641 | CLINVAR | NA | 0.321357209 | NA | MYH9 | 22 | 36305985 | G | A |
| rs80338827 | NA | 4627 | MYH9 | umls:C0398641 | CLINVAR | NA | 0.321357209 | NA | MYH9 | 22 | 36305984 | C | T |
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.) |
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.) | |