| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Deafness, Autosomal Recessive | GJB3 | disease | C1846647 | CausalMutation | 0.4 | orphanet , disgenet |
| Deafness, Autosomal Recessive | GJB2 | disease | C1846647 | Biomarker | 0.4 | orphanet , disgenet |
| Deafness, Autosomal Recessive | GJB2 | disease | C1846647 | GeneticVariation | 0.4 | orphanet , disgenet |
| Deafness, Autosomal Recessive | GJB3 | disease | C1846647 | Biomarker | 0.4 | orphanet , disgenet |
| Deafness, Autosomal Recessive | CDH23 | disease | C1846647 | Biomarker | 0.32 | orphanet , disgenet |
| Deafness, Autosomal Recessive | CDH23 | disease | C1846647 | GeneticVariation | 0.32 | orphanet , disgenet |
| Deafness, Autosomal Recessive | PDZD7 | disease | C1846647 | Biomarker | 0.31 | disgenet |
| Deafness, Autosomal Recessive | PNPT1 | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | TRIOBP | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | CLIC5 | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | WBP2 | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | TMEM132E | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | ADCY1 | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | PTPRQ | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | DMXL2 | disease | C1846647 | Biomarker | 0.3 | disgenet |
| Deafness, Autosomal Recessive | EPS8 | disease | C1846647 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness, Autosomal Recessive | ATP6V1B1 | disease | C1846647 | Biomarker | 0.2 | disgenet |
| Deafness, Autosomal Recessive | OTOF | disease | C1846647 | CausalMutation | 0.14 | orphanet , disgenet |
| Deafness, Autosomal Recessive | OTOF | disease | C1846647 | Biomarker | 0.14 | orphanet , disgenet |
| Deafness, Autosomal Recessive | OTOF | disease | C1846647 | GeneticVariation | 0.14 | orphanet , disgenet |
| Deafness, Autosomal Recessive | SMIM12 | disease | C1846647 | CausalMutation | 0.1 | disgenet |
| Deafness, Autosomal Recessive | TMPRSS3 | disease | C1846647 | Biomarker | 0.06 | orphanet , disgenet |
| Deafness, Autosomal Recessive | TMPRSS3 | disease | C1846647 | GeneticVariation | 0.06 | orphanet , disgenet |
| Deafness, Autosomal Recessive | SLC26A4 | disease | C1846647 | GeneticVariation | 0.04 | orphanet , disgenet |
| Deafness, Autosomal Recessive | GJB6 | disease | C1846647 | Biomarker | 0.04 | orphanet , disgenet |
| Deafness, Autosomal Recessive | GJB6 | disease | C1846647 | GeneticVariation | 0.04 | orphanet , disgenet |
| Deafness, Autosomal Recessive | MYO15A | disease | C1846647 | GeneticVariation | 0.02 | orphanet , disgenet |
| Deafness, Autosomal Recessive | MYO15A | disease | C1846647 | Biomarker | 0.02 | orphanet , disgenet |
| Deafness, Autosomal Recessive | WHRN | disease | C1846647 | GeneticVariation | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | STRC | disease | C1846647 | GeneticVariation | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | GJA1 | disease | C1846647 | GeneticVariation | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | AIFM1 | disease | C1846647 | GeneticVariation | 0.01 | disgenet |
| Deafness, Autosomal Recessive | SLC22A4 | disease | C1846647 | GeneticVariation | 0.01 | disgenet |
| Deafness, Autosomal Recessive | SLC26A3 | disease | C1846647 | GeneticVariation | 0.01 | disgenet |
| Deafness, Autosomal Recessive | MET | disease | C1846647 | GeneticVariation | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | ESPN | disease | C1846647 | GeneticVariation | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | CAPG | disease | C1846647 | Biomarker | 0.01 | disgenet |
| Deafness, Autosomal Recessive | CLDN14 | disease | C1846647 | Biomarker | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | DIAPH3 | disease | C1846647 | GeneticVariation | 0.01 | disgenet |
| Deafness, Autosomal Recessive | ELMOD3 | disease | C1846647 | Biomarker | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | ATP8A2 | disease | C1846647 | Biomarker | 0.01 | disgenet |
| Deafness, Autosomal Recessive | FOXI1 | disease | C1846647 | Biomarker | 0.01 | disgenet |
| Deafness, Autosomal Recessive | NEUROG1 | disease | C1846647 | GeneticVariation | 0.01 | disgenet |
| Deafness, Autosomal Recessive | PJVK | disease | C1846647 | GeneticVariation | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | OTOA | disease | C1846647 | Biomarker | 0.01 | orphanet , disgenet |
| Deafness, Autosomal Recessive | TFF1 | disease | C1846647 | Biomarker | 0.01 | disgenet |
| Deafness, Autosomal Recessive | SLC26A5 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | ATP2B2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | OTOGL | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | MARVELD2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | HGF | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | KARS1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | GIPC3 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | MYO3A | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | RDX | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | CDC14A | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | TMIE | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | ESRRB | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | GPSM2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | MYO7A | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | ROR1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | TPRN | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | DCDC2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | CEACAM16 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | BSND | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | GRAP | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | SYNE4 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | LHFPL5 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | USH1C | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | LOXHD1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | PPIP5K2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | SERPINB6 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | ILDR1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | SLC9A1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | MPZL2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | TSPEAR | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | PCDH15 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | EPS8L2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | GRXCR2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | TECTA | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | CIB2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | TBC1D24 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | NARS2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | MSRB3 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | PEX6 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | OTOG | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | RIPOR2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | SLITRK6 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | S1PR2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | MYO6 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | COL11A2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | CABP2 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | BDP1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | LRTOMT | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | TMC1 | NA | C1846647 | NA | NA | orphanet |
| Deafness, Autosomal Recessive | GRXCR1 | NA | C1846647 | NA | NA | orphanet |
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