eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| corticobasal degeneration | ||||
| Disease ID | 1164 |
|---|---|
| Disease | corticobasal degeneration |
| Definition | A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. |
| Synonym | cortical basal ganglionic degeneration corticobasal degeneration (disorder) corticobasal degneration corticodentatonigral degeneration with neuronal achromasia degeneration corticobasal |
| Orphanet | |
| UMLS | C0393570 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0497327 | dementia | 5 C0013421 | dystonia | 2 C0003537 | aphasia | 2 C0236642 | pick's disease | 2 C0338451 | frontotemporal dementia | 2 C0028968 | olivopontocerebellar atrophy | 1 C0002395 | alzheimer's disease | 1 C0011570 | depression | 1 C0027765 | neurological disorder | 1 C0027849 | neuroleptic malignant syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1164 |
|---|---|
| Disease | corticobasal degeneration |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0100315 | Lewy bodies | 9 HP:0000726 | Dementia | 5 HP:0002381 | Aphasia | 3 HP:0001332 | Dystonia | 2 HP:0002145 | Frontotemporal dementia | 2 HP:0001272 | Cerebellar atrophy | 1 HP:0006879 | Pontocerebellar atrophy | 1 HP:0002542 | Olivopontocerebellar degeneration | 1 HP:0001336 | Myoclonic jerks | 1 HP:0000716 | Depression | 1 HP:0001300 | Parkinsonism | 1 HP:0002511 | Late-onset form of familial Alzheimer disease | 1 |
| Disease ID | 1164 |
|---|---|
| Disease | corticobasal degeneration |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:23) C2364072 | depression C2364051 | fatigue C0751772 | rem sleep behavior disorder C0751093 | limb dystonia C0748903 | spinal cord involvement C0575081 | gait disturbance C0393593 | dystonia C0278161 | motor ataxia C0242422 | parkinsonism C0235946 | cortical atrophy C0235169 | excitability C0234527 | motor apraxia C0234523 | limb-kinetic apraxia C0221505 | brain lesions C0036572 | seizures C0034069 | pulmonary fibrosis C0028850 | eye movement disorders C0027765 | neurological disorder C0027066 | myoclonus C0026650 | movement disorders C0003635 | dyspraxia C0003635 | apraxia C0003537 | aphasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0003537 | aphasia | 3 C0013421 | dystonia | 2 C0027066 | myoclonus | 1 C0027765 | neurological disorder | 1 C0242422 | parkinsonism | 1 C0011570 | depression | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs76980269 | 18042235 | 4842 | NOS1 | umls:C0393570 | BeFree | Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). | 0.000271442 | 2008 | NOS1 | 12 | 117330794 | G | A |
| rs9468 | 22027014 | 4137 | MAPT | umls:C0393570 | BeFree | We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration. | 0.008957582 | 2012 | MAPT | 17 | 46024197 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1164 |
|---|---|
| Disease | corticobasal degeneration |
| Case | (Waiting for update.) |