eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spinocerebellar ataxia 7 | ||||
| Disease ID | 1438 |
|---|---|
| Disease | spinocerebellar ataxia 7 |
| Definition | A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. |
| Synonym | adca, type ii ataxia 7, spinocerebellar ataxia 7s, spinocerebellar ataxia with pigmentary retinopathy atrophy iii, olivopontocerebellar autosomal dominant cerebellar ataxia, type ii cerebellar syndrome pigmentary maculopathy olivopontocerebellar atrophy iii olivopontocerebellar atrophy iiis opca iii opca with macular degeneration and external ophthalmoplegia opca with retinal degeneration opca3 sca7 spinocerebellar ataxia 7s spinocerebellar ataxia type 007 spinocerebellar ataxia type 7 spinocerebellar ataxia type 7 (disorder) spinocerebellar ataxia-7 type 7 spinocerebellar ataxia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0752125 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0035309 | retinopathy | 1 C0004134 | ataxia | 1 C0031117 | peripheral neuropathy | 1 C0456909 | blindness | 1 C0442874 | neuropathy | 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:34) 24 | ABCA4 | 1.095 | DISEASES 9140 | ATG12 | 1.792 | DISEASES 9776 | ATG13 | 2.801 | DISEASES 1822 | ATN1 | 1.626 | DISEASES 6311 | ATXN2 | 1.616 | DISEASES 4287 | ATXN3 | 2.471 | DISEASES 6314 | ATXN7 | 8.228 | DISEASES 552889 | ATXN7L3B | 4.216 | DISEASES 840 | CASP7 | 2.674 | DISEASES 3301 | DNAJA1 | 3.195 | DISEASES 56943 | ENY2 | 3.131 | DISEASES 3006 | HIST1H1C | 2.376 | DISEASES 8337 | HIST2H2AA3 | 1.15 | DISEASES 8338 | HIST2H2AC | 1.15 | DISEASES 8349 | HIST2H2BE | 2.375 | DISEASES 3064 | HTT | 1.308 | DISEASES 3916 | LAMP1 | 1.021 | DISEASES 3920 | LAMP2 | 1.301 | DISEASES 3963 | LGALS7 | 1.36 | DISEASES 27035 | NOX1 | 1.248 | DISEASES 4901 | NRL | 2.762 | DISEASES 5158 | PDE6B | 1.43 | DISEASES 25898 | RCHY1 | 2.181 | DISEASES 5649 | RELN | 1.378 | DISEASES 6093 | ROCK1 | 1.235 | DISEASES 6103 | RPGR | 1.469 | DISEASES 6295 | SAG | 1.016 | DISEASES 100861563 | SCAANT1 | 4.08 | DISEASES 7341 | SUMO1 | 1.387 | DISEASES 6613 | SUMO2 | 1.995 | DISEASES 6612 | SUMO3 | 2.024 | DISEASES 8295 | TRRAP | 3.526 | DISEASES 8408 | ULK1 | 1.578 | DISEASES 7514 | XPO1 | 1.339 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1438 |
|---|---|
| Disease | spinocerebellar ataxia 7 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001251 | Ataxia | 1 HP:0002500 | Leukoaraiosis | 1 HP:0009830 | Peripheral neuritis | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0007141 | Mixed polyneuropathy | 1 HP:0000618 | Blindness | 1 HP:0002120 | Cerebral cortical atrophy | 1 |
| Disease ID | 1438 |
|---|---|
| Disease | spinocerebellar ataxia 7 |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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 |
| rs193922929 | NA | 6314 | ATXN7 | umls:C0752125 | CLINVAR | NA | 0.332214884 | NA | NA | NA | NA | NA | NA |
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 | 1438 |
|---|---|
| Disease | spinocerebellar ataxia 7 |
| Case | (Waiting for update.) |