eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile pilocytic astrocytoma | ||||
| Disease ID | 1464 |
|---|---|
| Disease | juvenile pilocytic astrocytoma |
| Definition | A slow-growing type of central nervous system tumor that forms from glial (supportive) tissue of the brain and spinal cord. Juvenile pilocytic astrocytoma usually occurs in children and young adults. It forms in the brain more often than the spinal cord. |
| Synonym | astrocytoma, juvenile pilocytic astrocytomas, juvenile pilocytic juvenile pilocytic astrocytomas pilocytic astrocytoma, juvenile pilocytic astrocytomas, juvenile |
| DOID | |
| UMLS | C0280783 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | (Waiting for update.) |
| Disease ID | 1464 |
|---|---|
| Disease | juvenile pilocytic astrocytoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1464 |
|---|---|
| Disease | juvenile pilocytic astrocytoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0018784 | sensorineural hearing loss |
| Text Mined Symptom | (Waiting for update.) |
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 |
| rs113488022 | 20806365 | 673 | BRAF | umls:C0280783 | BeFree | AZD6244 was evaluated against two JPA xenografts, BT-35 (wild-type BRAF) and BT-40 (mutant [V600E] BRAF). | 0.000271442 | 2010 | BRAF | 7 | 140753336 | A | T,G,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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1464 |
|---|---|
| Disease | juvenile pilocytic astrocytoma |
| Case | (Waiting for update.) |