PedAM
Pediatric Disease Annotations & Medicines
| auditory neuropathy | ||||
| Disease ID | 1176 |
|---|---|
| Disease | auditory neuropathy |
| Definition | Auditory neuropathy (AN) is a variety of hearing loss in which the outer hair cells within the cochlea are present and functional, but sound information is not faithfully transmitted to the auditory nerve and brain properly. Also known as Auditory Neuropathy/Auditory Dys-synchrony (AN/AD) or Auditory Neuropathy Spectrum Disorder (ANSD). - Wikipedia Reference: https://en.wikipedia.org/wiki/auditory neuropathy |
| Synonym | auditory dys-synchrony familial auditory neuropathy progressive auditory neuropathy |
| UMLS | C1852271 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0004045 | birth asphyxia | 1 C0029124 | optic atrophy | 1 C0023264 | leigh syndrome | 1 C0796274 | brown-vialetto-van laere syndrome | 1 C0011854 | type 1 diabetes | 1 C0025289 | meningitis | 1 C0028738 | nystagmus | 1 C0042769 | virus infection | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1176 |
|---|---|
| Disease | auditory neuropathy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000365 | Hearing impairment | 3 HP:0000360 | Ringing in the ears | 2 HP:0001287 | Meningitis | 1 HP:0002904 | High blood bilirubin levels | 1 HP:0000952 | Yellow skin | 1 HP:0000648 | Optic-nerve degeneration | 1 HP:0000639 | Nystagmus | 1 |
| Disease ID | 1176 |
|---|---|
| Disease | auditory neuropathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111706634 | 17301963 | 494513 | DFNB59 | umls:C1852271 | BeFree | The DFNB59 gene has been identified recently, and two missense mutations (p.R183W and p.T54I) have been shown to cause auditory neuropathy in both humans and transgenic mice. | 0.001357209 | 2007 | DFNB59 | 2 | 178456149 | C | A,T |
| rs118203988 | 17301963 | 494513 | DFNB59 | umls:C1852271 | BeFree | The DFNB59 gene has been identified recently, and two missense mutations (p.R183W and p.T54I) have been shown to cause auditory neuropathy in both humans and transgenic mice. | 0.001357209 | 2007 | DFNB59 | 2 | 178453570 | C | T |
| rs267606618 | NA | 4549 | RNR1 | umls:C1852271 | CLINVAR | NA | 0.12 | NA | NA | MT | 1095 | T | C |
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.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C1852271 | streptozocin | D013311 | 18883-66-4 | auditory neuropathy | MESH:C538268 | marker/mechanism | 18164131 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |