eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| photosensitive epilepsy | ||||
| Disease ID | 1287 |
|---|---|
| Disease | photosensitive epilepsy |
| Definition | Photosensitive epilepsy (PSE) is a form of epilepsy in which seizures are triggered by visual stimuli that form patterns in time or space, such as flashing lights, bold, regular patterns, or regular moving patterns. - Wikipedia Reference: https://en.wikipedia.org/wiki/photosensitive epilepsy |
| Synonym | epilepsies, photosensitive epilepsies, photosensitive reflex epilepsy, photogenic epilepsy, photosensitive epilepsy, photosensitive reflex photic epilepsy photogenic epilepsy photogenic epilepsy (disorder) photosensitive epilepsies photosensitive reflex epilepsies photosensitive reflex epilepsy reflex epilepsies, photosensitive reflex epilepsy, photosensitive television epilepsy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0393720 |
| SNOMED-CT | |
| 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:25) 6046 | BRD2 | 3.729 | DISEASES 203228 | C9orf72 | 2.705 | DISEASES 773 | CACNA1A | 1.645 | DISEASES 820 | CAMP | 1.567 | DISEASES 1106 | CHD2 | 5.031 | DISEASES 56259 | CTNNBL1 | 3.221 | DISEASES 1558 | CYP2C8 | 2.441 | DISEASES 2903 | GRIN2A | 1.908 | DISEASES 2914 | GRM4 | 2.986 | DISEASES 3363 | HTR7 | 1.239 | DISEASES 102723508 | KANTR | 1.751 | DISEASES 9211 | LGI1 | 2.108 | DISEASES 4204 | MECP2 | 1.45 | DISEASES 23327 | NEDD4L | 3.729 | DISEASES 4771 | NF2 | 1.344 | DISEASES 378884 | NHLRC1 | 2.606 | DISEASES 5627 | PROS1 | 2.676 | DISEASES 5813 | PURA | 3.199 | DISEASES 6513 | SLC2A1 | 1.243 | DISEASES 348932 | SLC6A18 | 3.687 | DISEASES 6635 | SNRPE | 2.93 | DISEASES 9900 | SV2A | 4.492 | DISEASES 10043 | TOM1 | 3.641 | DISEASES 7223 | TRPC4 | 3.203 | DISEASES 51341 | ZBTB7A | 5.241 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1287 |
|---|---|
| Disease | photosensitive epilepsy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) HP:0001250 | Seizures | 2 HP:0002069 | Generalized tonic clonic seizures | 1 HP:0001332 | Dystonia | 1 |
| Disease ID | 1287 |
|---|---|
| Disease | photosensitive epilepsy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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:0) | |
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| (Waiting for update.) | |
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 | 1287 |
|---|---|
| Disease | photosensitive epilepsy |
| Case | (Waiting for update.) |