PedAM
Pediatric Disease Annotations & Medicines
| usher syndrome | ||||
| Disease ID | 132 |
|---|---|
| Disease | usher syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0008499 | High-grade hypermetropia HP:0000144 | Decreased fertility HP:0000407 | Sensorineural hearing impairment HP:0000738 | Hallucinations HP:0000739 | Anxiety HP:0011073 | Abnormality of dental color HP:0001751 | Vestibular dysfunction HP:0000483 | Astigmatism HP:0000670 | Carious teeth HP:0000545 | Myopia HP:0001251 | Ataxia HP:0000529 | Progressive visual loss HP:0000360 | Tinnitus HP:0000662 | Nyctalopia HP:0100543 | Cognitive impairment HP:0000618 | Blindness HP:0008568 | Vestibular areflexia HP:0000682 | Abnormality of dental enamel HP:0011025 | Abnormality of cardiovascular system physiology HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0003198 | Myopathy HP:0000691 | Microdontia HP:0000505 | Visual impairment HP:0000709 | Psychosis HP:0001123 | Visual field defect HP:0000716 | Depression HP:0003457 | EMG abnormality HP:0010780 | Hyperacusis HP:0000518 | Cataract HP:0007703 | Abnormality of retinal pigmentation HP:0000639 | Nystagmus HP:0002120 | Cerebral cortical atrophy HP:0000512 | Abnormal electroretinogram HP:0001639 | Hypertrophic cardiomyopathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000618 | Blindness | 4 HP:0000365 | Hearing impairment | 4 HP:0000510 | Retinitis pigmentosa | 3 HP:0000554 | Uveitis | 3 HP:0000708 | Behavioral problems | 2 HP:0000546 | Retinal degeneration | 1 HP:0012122 | Anterior uveitis | 1 HP:0000572 | Visual loss | 1 HP:0001297 | Cerebral vascular events | 1 HP:0006297 | Hypoplasia of tooth enamel | 1 HP:0001263 | Developmental retardation | 1 |
| Disease ID | 132 |
|---|---|
| Disease | usher syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2029884 | hearing loss C1963229 | retinal detachment C1384666 | hearing impairment C0581883 | deafness C0524801 | retinal tumor C0456909 | blindness C0268563 | sarcosinaemia C0086543 | cataracts C0036454 | visual field loss C0035334 | retinitis pigmentosa C0035321 | retinal tear C0035309 | retinal disease C0035304 | retinal degenerations C0033975 | psychosis C0024441 | macular holes C0004096 | bronchial asthma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0456909 | blindness | 4 C0011053 | deafness | 4 C0035334 | retinitis pigmentosa | 3 C1384666 | hearing loss | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:3) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203888 | NA | 4575 | TRNS2 | umls:C0271097 | CLINVAR | NA | 0.12 | NA | NA | MT | 12258 | C | A |
| rs137852840 | 17171570 | 25861 | DFNB31 | umls:C0271097 | BeFree | Sequence analysis of DFNB31 revealed compound heterozygosity for a nonsense mutation, p.Q103X, in exon 1, and a mutation in the splice donor site of exon 2, c.837+1G>A. DFNB31 mutations appear to be a rare cause of Usher syndrome, since no mutations were identified in an additional 96 USH2 patients. | 0.00617715 | 2007 | DFNB31 | 9 | 114504495 | G | A |
| rs397517925 | 16283141 | 124590 | USH1G | umls:C0271097 | BeFree | A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. | 0.011268532 | 2005 | USH1G | 17 | 74919463 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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