| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Deafness | TMTC2 | phenotype | C0011053 | Biomarker | 0.5 | disgenet |
| Deafness | GJB3 | phenotype | C0011053 | Biomarker | 0.5 | disgenet |
| Deafness | GJB2 | phenotype | C0011053 | Biomarker | 0.45 | disgenet |
| Deafness | GJB2 | phenotype | C0011053 | CausalMutation | 0.45 | disgenet |
| Deafness | GJB2 | phenotype | C0011053 | GeneticVariation | 0.45 | disgenet |
| Deafness | OTOF | phenotype | C0011053 | Biomarker | 0.4 | disgenet |
| Deafness | PJVK | phenotype | C0011053 | CausalMutation | 0.4 | disgenet |
| Deafness | OTOF | phenotype | C0011053 | CausalMutation | 0.4 | disgenet |
| Deafness | PJVK | phenotype | C0011053 | Biomarker | 0.4 | disgenet |
| Deafness | CLDN14 | phenotype | C0011053 | CausalMutation | 0.4 | disgenet |
| Deafness | CLDN14 | phenotype | C0011053 | Biomarker | 0.4 | disgenet |
| Deafness | PCDH15 | phenotype | C0011053 | Biomarker | 0.31 | disgenet |
| Deafness | JAG1 | phenotype | C0011053 | GeneticVariation | 0.31 | disgenet |
| Deafness | PCDH15 | phenotype | C0011053 | GeneticVariation | 0.31 | disgenet |
| Deafness | JAG1 | phenotype | C0011053 | Biomarker | 0.31 | disgenet |
| Deafness | AK2 | phenotype | C0011053 | Biomarker | 0.31 | disgenet |
| Deafness | AK2 | phenotype | C0011053 | GeneticVariation | 0.31 | disgenet |
| Deafness | FOXI1 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | RNR1 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | CDC14A | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | BDNF | phenotype | C0011053 | Therapeutic | 0.3 | disgenet |
| Deafness | PLS1 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | SLC26A5 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | POLD1 | phenotype | C0011053 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness | ESPN | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | PAX3 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | MYO7A | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | CACNA1D | phenotype | C0011053 | Biomarker | 0.3 | orphanet , disgenet |
| Deafness | SPATC1L | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | MYO7A | phenotype | C0011053 | CausalMutation | 0.3 | disgenet |
| Deafness | SMAD4 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | RSPH4A | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | PISD | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | MITF | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | SERAC1 | phenotype | C0011053 | Biomarker | 0.3 | disgenet |
| Deafness | KCNK10 | phenotype | C0011053 | Biomarker | 0.2 | disgenet |
| Deafness | KCNQ1 | phenotype | C0011053 | Biomarker | 0.2 | disgenet |
| Deafness | KCNK3 | phenotype | C0011053 | Biomarker | 0.2 | disgenet |
| Deafness | RET | phenotype | C0011053 | Biomarker | 0.2 | disgenet |
| Deafness | KCNK1 | phenotype | C0011053 | Biomarker | 0.2 | disgenet |
| Deafness | USH2A | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | SLC26A4 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | EPS8 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | CLCNKA | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | ILDR1 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | OTOG | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | PTPRQ | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | AKNAD1 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | WHRN | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | CDH23 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | LOXHD1 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | TECTA | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | USH1G | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | SLC26A4-AS1 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | GRXCR1 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | MARVELD2 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | TMC1 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | GPSM2 | phenotype | C0011053 | CausalMutation | 0.1 | disgenet |
| Deafness | OPA1 | phenotype | C0011053 | GeneticVariation | 0.04 | disgenet |
| Deafness | GATA3 | phenotype | C0011053 | GeneticVariation | 0.04 | disgenet |
| Deafness | BSND | phenotype | C0011053 | GeneticVariation | 0.02 | disgenet |
| Deafness | MYH9 | phenotype | C0011053 | GeneticVariation | 0.01 | disgenet |
| Deafness | KCNQ4 | phenotype | C0011053 | GeneticVariation | 0.01 | disgenet |
| Deafness | TALDO1 | phenotype | C0011053 | Biomarker | 0.01 | disgenet |
| Deafness | FGF3 | phenotype | C0011053 | Biomarker | 0.01 | orphanet , disgenet |
| Deafness | TMPRSS3 | phenotype | C0011053 | GeneticVariation | 0.01 | disgenet |
| Deafness | PTPN11 | phenotype | C0011053 | GeneticVariation | 0.01 | disgenet |
| Deafness | SLC12A7 | phenotype | C0011053 | Biomarker | 0.01 | disgenet |
| Deafness | SLC4A11 | phenotype | C0011053 | Biomarker | 0.01 | disgenet |
| Deafness | COCH | phenotype | C0011053 | GeneticVariation | 0.01 | disgenet |
| Deafness | GJB6 | phenotype | C0011053 | GeneticVariation | 0.01 | disgenet |
| Deafness | PRPS1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | FGFR3 | NA | C0011053 | NA | NA | orphanet |
| Deafness | GFER | NA | C0011053 | NA | NA | orphanet |
| Deafness | DNMT1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | EXOSC2 | NA | C0011053 | NA | NA | orphanet |
| Deafness | GATA2 | NA | C0011053 | NA | NA | orphanet |
| Deafness | TRAPPC12 | NA | C0011053 | NA | NA | orphanet |
| Deafness | ABHD12 | NA | C0011053 | NA | NA | orphanet |
| Deafness | MT-TK | NA | C0011053 | NA | NA | orphanet |
| Deafness | MAFB | NA | C0011053 | NA | NA | orphanet |
| Deafness | PDSS1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | AIFM1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | ATP6V1B2 | NA | C0011053 | NA | NA | orphanet |
| Deafness | SLC33A1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | HOXB1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | MT-TL1 | NA | C0011053 | NA | NA | orphanet |
| Deafness | MYH14 | NA | C0011053 | NA | NA | orphanet |
| Deafness | MT-TE | NA | C0011053 | NA | NA | orphanet |
| Deafness | HYAL2 | NA | C0011053 | NA | NA | orphanet |
| Deafness | DLX5 | NA | C0011053 | NA | NA | orphanet |
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