PedAM
Pediatric Disease Annotations & Medicines
| sensorineural hearing loss | ||||
| Disease ID | 826 |
|---|---|
| Disease | sensorineural hearing loss |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0025289 | meningitis | 5 C0009450 | infection | 3 C1855772 | vici syndrome | 2 C0151313 | sensory neuropathy | 1 C0010823 | cytomegalovirus infection | 1 C0027859 | acoustic neuroma | 1 C0242339 | dyslipidemia | 1 C0016169 | fistula | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:49) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10258719 | 24564331 | 50617 | ATP6V0A4 | umls:C0018784 | BeFree | Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report. | 0.002442977 | 2015 | ATP6V0A4 | 7 | 138771243 | A | G |
| rs104894334 | 10770218 | 359 | AQP2 | umls:C0018784 | BeFree | In addition, a recurrent missense mutation (A147T) within the aquaporin-2 gene was identified in a female patient with autosomal recessive NDI associated with sensorineural deafness. | 0.000271442 | 2000 | AQP2;LOC101927318 | 12 | 49954233 | G | A |
| rs104894409 | 12562518 | 2706 | GJB2 | umls:C0018784 | BeFree | Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness. | 0.344722344 | 2003 | GJB2 | 13 | 20189332 | C | T,G,A |
| rs111033299 | 12562518 | 2706 | GJB2 | umls:C0018784 | BeFree | Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness. | 0.344722344 | 2003 | GJB2 | 13 | 20189299 | C | T |
| rs121908361 | 25572613 | 5172 | SLC26A4 | umls:C0018784 | BeFree | This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss. | 0.160281813 | 2015 | SLC26A4 | 7 | 107689156 | A | G |
| rs121908362 | 11405873 | 5172 | SLC26A4 | umls:C0018784 | BeFree | We report a case of Pendred syndrome in a 27-year-old woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation (His723Arg) in the PDS gene identified in a homozygous state. | 0.160281813 | 2001 | SLC26A4 | 7 | 107710132 | A | G |
| rs121912557 | 15123708 | 4646 | MYO6 | umls:C0018784 | BeFree | The missense mutation of Cys(442) to Tyr of myosin VI causes progressive postlingual sensorineural deafness. | 0.000814326 | 2004 | MYO6 | 6 | 75857198 | G | A |
| rs1387153 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | NA | 11 | 92940662 | C | T |
| rs1387153 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | NA | 11 | 92940662 | C | T |
| rs1387153 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | NA | 11 | 92940662 | C | T |
| rs143923730 | 23251578 | 10083 | USH1C | umls:C0018784 | BeFree | While other USH1C mutations usually cause Usher type I (including RP, vestibular dysfunction and congenital deafness), audiometric screening of 10 patients who are homozygous for c.1220delG revealed that patients under 40 years of age had normal hearing while older patients showed mild to severe high tone sensorineural hearing loss. | 0.000542884 | 2012 | USH1C | 11 | 17517465 | C | G,T |
| rs16944 | 21385326 | 3553 | IL1B | umls:C0018784 | BeFree | The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (IL1B) (-511C/T; rs16944) were determined using an allele-specific primer-polymerase chain reaction method in 72 patients with SSNHL, 68 patients with Ménière's disease, and 2202 control subjects living almost in the same area as the patients. | 0.000542884 | 2011 | IL1B | 2 | 112837290 | A | G |
| rs1799983 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | NOS3 | 7 | 150999023 | T | G |
| rs1800587 | 21385326 | 3553 | IL1B | umls:C0018784 | BeFree | The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (IL1B) (-511C/T; rs16944) were determined using an allele-specific primer-polymerase chain reaction method in 72 patients with SSNHL, 68 patients with Ménière's disease, and 2202 control subjects living almost in the same area as the patients. | 0.000542884 | 2011 | IL1A | 2 | 112785383 | G | C,A |
| rs1801002 | 23812555 | 2706 | GJB2 | umls:C0018784 | BeFree | The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G>C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. | 0.344722344 | 2013 | GJB2 | 13 | 20189547 | C | T,A |
| rs1801394 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1805087 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | MTR | 1 | 236885200 | A | G |
| rs28357984 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | ND2 | MT | 5178 | C | A |
| rs28357984 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | ND2 | MT | 5178 | C | A |
| rs28357984 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | ND2 | MT | 5178 | C | A |
| rs28931595 | 23812555 | 2706 | GJB2 | umls:C0018784 | BeFree | The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G>C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. | 0.344722344 | 2013 | GJB2 | 13 | 20189047 | C | T,A |
| rs28937588 | 25116015 | 9132 | KCNQ4 | umls:C0018784 | BeFree | Then we identified a novel KCNQ4 mutation p.W275R in exon 5 and a known KCNQ4 mutation p.G285S in exon 6 in two large Chinese ADNSHL families segregating with post-lingual high frequency-involved and progressive sensorineural hearing loss. | 0.007891677 | 2014 | KCNQ4 | 1 | 40819893 | G | A,T |
| rs28938175 | 9931344 | 1690 | COCH | umls:C0018784 | BeFree | A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. | 0.005167327 | 1999 | COCH;LOC100506071 | 14 | 30877640 | C | T |
| rs35887622 | 11134236 | 2706 | GJB2 | umls:C0018784 | BeFree | Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. | 0.344722344 | 2001 | GJB2 | 13 | 20189481 | A | C,G |
| rs3840634 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | CAV1 | 7 | 116556798 | T | C |
| rs3840634 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | CAV1 | 7 | 116556798 | T | C |
| rs3840634 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | CAV1 | 7 | 116556798 | T | C |
| rs387906930 | 21538838 | 7466 | WFS1 | umls:C0018784 | BeFree | Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. | 0.016607612 | 2011 | WFS1 | 4 | 6301846 | C | T |
| rs387906930 | 21538838 | 4976 | OPA1 | umls:C0018784 | BeFree | Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. | 0.00408156 | 2011 | WFS1 | 4 | 6301846 | C | T |
| rs4673 | 23560644 | 4544 | MTNR1B | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | CYBA | 16 | 88646828 | A | G |
| rs4673 | 23560644 | 4552 | MTRR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.000271442 | 2014 | CYBA | 16 | 88646828 | A | G |
| rs4673 | 23560644 | 4548 | MTR | umls:C0018784 | BeFree | Multiple logistic regression was used to calculate odds ratios (ORs) for SSNHL and Ménière's disease in individuals with polymorphisms in the genes: methionine synthase (MTR; rs1805087); methionine-synthase reductase (MTRR; rs1801394); nitric oxide synthase 3 (NOS3; rs1799983); caveolin 1 (Cav1; rs3840634); melatonin receptor 1B (MTNR1B; rs1387153); NAD(P)H oxidase p22(phox) subunit (NADH/NADPHp22phox; rs4673); and mitochondria 5178 (MT5178; rs28357984). | 0.002909916 | 2014 | CYBA | 16 | 88646828 | A | G |
| rs72474224 | 16952406 | 2706 | GJB2 | umls:C0018784 | BeFree | We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene. | 0.344722344 | 2006 | GJB2 | 13 | 20189473 | C | A,T |
| rs72474224 | 12121355 | 2706 | GJB2 | umls:C0018784 | BeFree | Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss. | 0.344722344 | 2002 | GJB2 | 13 | 20189473 | C | A,T |
| rs72474224 | 16840571 | 2706 | GJB2 | umls:C0018784 | BeFree | Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background. | 0.344722344 | 2006 | GJB2 | 13 | 20189473 | C | A,T |
| rs72474224 | 17036313 | 2706 | GJB2 | umls:C0018784 | BeFree | V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. | 0.344722344 | 2006 | GJB2 | 13 | 20189473 | C | A,T |
| rs72561723 | 15633193 | 2706 | GJB2 | umls:C0018784 | BeFree | The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL. | 0.344722344 | 2005 | GJB2 | 13 | 20189448 | C | T |
| rs80338948 | 12562518 | 2706 | GJB2 | umls:C0018784 | BeFree | Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness. | 0.344722344 | 2003 | GJB2 | 13 | 20189155 | G | A |
| rs80356529 | 21538838 | 7466 | WFS1 | umls:C0018784 | BeFree | Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. | 0.016607612 | 2011 | OPA1 | 3 | 193643996 | G | A |
| rs80356529 | 16158427 | 4976 | OPA1 | umls:C0018784 | BeFree | Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. | 0.00408156 | 2005 | OPA1 | 3 | 193643996 | G | A |
| rs80356529 | 16240368 | 4976 | OPA1 | umls:C0018784 | BeFree | OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. | 0.00408156 | 2005 | OPA1 | 3 | 193643996 | G | A |
| rs80356529 | 21538838 | 4976 | OPA1 | umls:C0018784 | BeFree | Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. | 0.00408156 | 2011 | OPA1 | 3 | 193643996 | G | A |
| rs80358272 | 24655070 | 9132 | KCNQ4 | umls:C0018784 | BeFree | Based on the genotype-phenotype correlation, the c.211delC mutation in the KCNQ4 gene was associated with high-frequency SNHL in this family. | 0.007891677 | 2015 | KCNQ4 | 1 | 40784304 | 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:28) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0018784 | amikacin | D000583 | 37517-28-5 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 11794420 | ||
| C0018784 | ampicillin | D000667 | 69-53-4 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 4421333 | ||
| C0018784 | azacitidine | D001374 | 320-67-2 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 20234015 | ||
| C0018784 | azithromycin | D017963 | 83905-01-5 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 10690220 | ||
| C0018784 | chloramphenicol | D002701 | 56-75-7 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 6715985 | ||
| C0018784 | ciprofloxacin | D002939 | 85721-33-1 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 20977110 | ||
| C0018784 | cyclosporine | D016572 | 59865-13-3 | hearing loss, sensorineural | MESH:D006319 | therapeutic | 16303687 | ||
| C0018784 | cisplatin | D002945 | 15663-27-1 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 15464296 | ||
| C0018784 | zalcitabine | D016047 | 7481-89-2 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 1970411 | ||
| C0018784 | erythromycin | D004917 | 114-07-8 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 3872601 | ||
| C0018784 | framycetin | D005601 | 119-04-0 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 8588672 | ||
| C0018784 | imatinib mesylate | D000068877 | - | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 18221994 | ||
| C0018784 | indomethacin | D007213 | 53-86-1 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 20650042 | ||
| C0018784 | nevirapine | D019829 | 129618-40-2 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 11774091 | ||
| C0018784 | paclitaxel | D017239 | - | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 16406077 | ||
| C0018784 | peginterferon alfa-2a | C100416 | - | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 19565068 | ||
| C0018784 | peginterferon alfa-2b | C417083 | - | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 16149154 | ||
| C0018784 | propranolol | D011433 | 525-66-6 | hearing loss, sensorineural | MESH:D006319 | therapeutic | 2728176 | ||
| C0018784 | propylthiouracil | D011441 | 51-52-5 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 15583443 | ||
| C0018784 | quinine | D011803 | 130-95-0 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 18796142 | ||
| C0018784 | ribavirin | D012254 | 36791-04-5 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 16149154 | ||
| C0018784 | tacrolimus | D016559 | 109581-93-3 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 10417040 | ||
| C0018784 | theophylline | D013806 | 58-55-9 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 3627078 | ||
| C0018784 | valproic acid | D014635 | 99-66-1 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 2247241 | ||
| C0018784 | vancomycin | D014640 | 1404-90-6 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 12503934 | ||
| C0018784 | vigabatrin | D020888 | 60643-86-9 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 14557592 | ||
| C0018784 | vincristine | D014750 | - | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 2217048 | ||
| C0018784 | vinorelbine | C030852 | 71486-22-1 | hearing loss, sensorineural | MESH:D006319 | marker/mechanism | 9849468 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |