eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital nystagmus | ||||
| Disease ID | 1058 |
|---|---|
| Disease | congenital nystagmus |
| Definition | Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) |
| Synonym | congen nystagmus congenital nystagmus (disorder) congenital nystagmus [dup] (disorder) nystagmus (& [congenital]) nystagmus (& [congenital]) (disorder) nystagmus congen nystagmus congenital nystagmus, congenital nystagmus, congenital [disease/finding] |
| DOID | |
| ICD10 | |
| UMLS | C0700501 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0034951 | refractive error | 1 C0035304 | retinal degeneration | 1 C0034951 | refractive errors | 1 C0004106 | astigmatism | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:42) 60489 | APOBEC3G | 2.193 | DISEASES 23545 | ATP6V0A2 | 2.293 | DISEASES 7439 | BEST1 | 2.59 | DISEASES 650 | BMP2 | 1.869 | DISEASES 57010 | CABP4 | 3.068 | DISEASES 773 | CACNA1A | 2.009 | DISEASES 778 | CACNA1F | 1.993 | DISEASES 27101 | CACYBP | 2.772 | DISEASES 8573 | CASK | 3.566 | DISEASES 79140 | CCDC28B | 3.738 | DISEASES 1103 | CHAT | 1.088 | DISEASES 1121 | CHM | 2.896 | DISEASES 1123 | CHN1 | 2.849 | DISEASES 9946 | CRYZL1 | 3.005 | DISEASES 1785 | DNM2 | 1.135 | DISEASES 7430 | EZR | 3.167 | DISEASES 2596 | GAP43 | 1.584 | DISEASES 57165 | GJC2 | 2.426 | DISEASES 4935 | GPR143 | 6.197 | DISEASES 2987 | GUK1 | 1.313 | DISEASES 3547 | IGSF1 | 2.906 | DISEASES 102723508 | KANTR | 1.068 | DISEASES 169522 | KCNV2 | 2.937 | DISEASES 89782 | LMLN | 5.053 | DISEASES 4133 | MAP2 | 1.425 | DISEASES 4157 | MC1R | 1.526 | DISEASES 54903 | MKS1 | 2.974 | DISEASES 4478 | MSN | 3.506 | DISEASES 93034 | NT5C1B | 2.814 | DISEASES 60506 | NYX | 2.349 | DISEASES 4948 | OCA2 | 3.338 | DISEASES 5080 | PAX6 | 4.262 | DISEASES 5146 | PDE6C | 2.802 | DISEASES 5333 | PLCD1 | 2.991 | DISEASES 5962 | RDX | 3.669 | DISEASES 64221 | ROBO3 | 2.618 | DISEASES 10806 | SDCCAG8 | 2.797 | DISEASES 246744 | STH | 1.775 | DISEASES 6812 | STXBP1 | 2.189 | DISEASES 91147 | TMEM67 | 2.619 | DISEASES 10381 | TUBB3 | 1.637 | DISEASES 7306 | TYRP1 | 2.481 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1058 |
|---|---|
| Disease | congenital nystagmus |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0007750 | Hypoplasia of the fovea | 1 HP:0001134 | Anterior polar cataract | 1 HP:0001155 | Hand anomalies | 1 HP:0000546 | Retinal degeneration | 1 HP:0000483 | Astigmatism | 1 HP:0000234 | Head abnormality | 1 |
| Disease ID | 1058 |
|---|---|
| Disease | congenital nystagmus |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1058 |
|---|---|
| Disease | congenital nystagmus |
| Case | (Waiting for update.) |