eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acquired porencephaly | ||||
| Disease ID | 1972 |
|---|---|
| Disease | acquired porencephaly |
| Synonym | acquired porencephaly (disorder) porencephalic cyst porencephaly porencephaly, acquired porencephaly, nos |
| Orphanet | |
| DOID | |
| UMLS | C0151860 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C1096063 | intractable epilepsy | 2 C0020255 | hydrocephalus | 2 C0018425 | gyrate atrophy | 1 C0238402 | pycnodysostosis | 1 C0033975 | psychosis | 1 C0014544 | epilepsy | 1 C0013384 | dyskinesia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 250 | ALPP | 3.27 | DISEASES 820 | CAMP | 2.101 | DISEASES 80254 | CEP63 | 2.786 | DISEASES 1282 | COL4A1 | 7.127 | DISEASES 1284 | COL4A2 | 5.643 | DISEASES 1285 | COL4A3 | 1.727 | DISEASES 1286 | COL4A4 | 2.065 | DISEASES 1287 | COL4A5 | 1.625 | DISEASES 1551 | CYP3A7 | 2.778 | DISEASES 10301 | DLEU1 | 2.951 | DISEASES 2116 | ETV2 | 3.61 | DISEASES 2316 | FLNA | 1.044 | DISEASES 2304 | FOXE1 | 1.872 | DISEASES 3481 | IGF2 | 1.318 | DISEASES 3785 | KCNQ2 | 1.619 | DISEASES 10660 | LBX1 | 2.009 | DISEASES 4524 | MTHFR | 1.21 | DISEASES 4782 | NFIC | 2.041 | DISEASES 8481 | OFD1 | 3.549 | DISEASES 146713 | RBFOX3 | 1.092 | DISEASES 51150 | SDF4 | 1.847 | DISEASES 462 | SERPINC1 | 1.667 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1972 |
|---|---|
| Disease | acquired porencephaly |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0000238 | Nonsyndromal hydrocephalus | 2 HP:0100660 | Dyskinesis | 1 HP:0001269 | Hemiparesis | 1 HP:0030746 | Intraventricular hemorrhage | 1 HP:0001342 | Intracerebral hemorrhage | 1 HP:0000709 | Psychosis | 1 |
| Disease ID | 1972 |
|---|---|
| Disease | acquired porencephaly |
| Manually Symptom | (Waiting for update.) |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
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 | 1972 |
|---|---|
| Disease | acquired porencephaly |
| Case | (Waiting for update.) |