eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| central neurocytoma | ||||
| Disease ID | 1511 |
|---|---|
| Disease | central neurocytoma |
| Definition | An intraventricular neuronal neoplasm composed of uniform round cells with neuronal differentiation. It is typically located in the lateral ventricles in the region of the foramen of Monro. It generally affects young adults and has a favorable prognosis. (Adapted from WHO) |
| Synonym | central neurocytoma (morphologic abnormality) central neurocytoma (who grade ii) central neurocytoma - histology central neurocytoma - histology (morphologic abnormality) central neurocytomas lipomatous medulloblastoma medullocytoma neurocytoma, central neurocytomas, central neurolipocytoma |
| Orphanet | |
| DOID | |
| UMLS | C0206719 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 9048 | ARTN | 4.758 | DISEASES 23136 | EPB41L3 | 2.124 | DISEASES 160897 | GPR180 | 2.369 | DISEASES 4133 | MAP2 | 3.213 | DISEASES 4745 | NELL1 | 2.679 | DISEASES 4753 | NELL2 | 3.125 | DISEASES 10763 | NES | 2.68 | DISEASES 116448 | OLIG1 | 2.528 | DISEASES 10215 | OLIG2 | 4.418 | DISEASES 127066 | OR14C36 | 4.662 | DISEASES 80310 | PDGFD | 2.14 | DISEASES 5725 | PTBP1 | 1.882 | DISEASES 5728 | PTEN | 1.315 | DISEASES 146713 | RBFOX3 | 3.976 | DISEASES 6295 | SAG | 1.144 | DISEASES 23583 | SMUG1 | 1.924 | DISEASES 55553 | SOX6 | 2.349 | DISEASES 10381 | TUBB3 | 1.488 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1511 |
|---|---|
| Disease | central neurocytoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0003401 | Paresthesia HP:0001251 | Ataxia HP:0001254 | Lethargy HP:0001259 | Coma HP:0002516 | Increased intracranial pressure HP:0002017 | Nausea and vomiting HP:0002514 | Cerebral calcification HP:0000238 | Hydrocephalus HP:0000360 | Tinnitus HP:0002315 | Headache HP:0003487 | Babinski sign HP:0010576 | Intracranial cystic lesion HP:0007021 | Pain insensitivity |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1511 |
|---|---|
| Disease | central neurocytoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0019080 | hemorrhage |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001259 | Coma | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000360 | Tinnitus | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003487 | Babinski sign | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0007021 | Pain insensitivity | MP:0012725 | small sebaceous gland | decreased size of the sebum secreting glands of the hair shaft |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1511 |
|---|---|
| Disease | central neurocytoma |
| Case | (Waiting for update.) |