| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hypertonia, Muscle | OXT | phenotype | C0026826 | Biomarker | 0.3 | disgenet |
| Hypertonia, Muscle | PMS1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DLL4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TUBB4A | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | ERCC1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ASXL3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TTPA | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TMEM106B | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PAX1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KCNA1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | BTD | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | BCKDHB | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EIF2S3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PIK3CA | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ATP5F1D | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | SCN2A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | BRAF | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | BCKDHA | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PSAT1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NIPBL | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EOGT | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MGAT2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | OGDH | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SEMA4A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | COQ9 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MLH1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ADNP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PAH | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DHCR7 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TSEN54 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ARX | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GMPPB | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ERCC2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RRM2B | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | BRAT1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HSPG2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC25A4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EBP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | OTUD6B | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PRRT2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | APP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | VAC14 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KCNQ2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DKC1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ATP13A2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | FKRP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ACOX1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GLRB | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TP53RK | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | POMT2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KCNQ2 | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | KCNQ3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ITM2B | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HNRNPH2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | OSGEP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | B3GALNT2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | CACNA1A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TOR1A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TANGO2 | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | SETD5 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SUOX | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MSH2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PHIP | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | GM2A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ERF | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SCN4A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ACD | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ATAD1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NDP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HDAC8 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GBA | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HEXA | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DYRK1A | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | ARV1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NFASC | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TWNK | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SMC3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | VPS37A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ARHGAP31 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ALG3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ADGRG1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RAD21 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | QDPR | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TGFBR2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TSEN54 | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | DPAGT1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MBOAT7 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PSEN2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SOX10 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | H1-4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | POLG | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TPRKB | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RNF13 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | IRF2BPL | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | RAB27A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC6A8 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PSPH | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TUBGCP4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RTEL1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PARN | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | WDR73 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EYA1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | WDR4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TOMM40 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ARHGEF9 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EED | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | CLCF1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC6A9 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | COG4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PITX3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | LYST | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NAA10 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GRIN2A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EIF2AK3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NUP107 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NUP133 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HTRA2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SCN8A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | AFG3L2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PSEN1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC19A3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | LINC02245 | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | CP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TRAF7 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | FTO | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MAGEL2 | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | PMS2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | CDK13 | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | EPCAM | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PCBD1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ZSWIM6 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GPHN | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PLAA | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ATP7A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | CASK | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | CRLF1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | OTX2 | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | MYO5A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GALC | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KYNU | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RPS20 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DPYD | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | POLG2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PRF1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SMC1A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DCX | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HUWE1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC6A5 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PLA2G6 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NCAPG2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | FKTN | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MFN2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | CYB5R3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SMC1A | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | DOCK6 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ERCC5 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KRAS | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | HLCS | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DBT | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | POMGNT1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | POLR3A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | FAN1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TERT | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DNAJC12 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NOTCH1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GRIN2D | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC1A4 | phenotype | C0026826 | CausalMutation | 0.1 | disgenet |
| Hypertonia, Muscle | KMT2A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PTS | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PLPBP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SORL1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MIPEP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC6A3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | EZH2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | POMT1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | LARGE1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | LAGE3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PSAP | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RBPJ | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | MSH6 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KMT2E | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | GLRA1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | GAMT | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | IFIH1 | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | MLH3 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | NECAP1 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PNPO | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | KMT2B | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | BMPR1A | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TP53 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TREM2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | PLK4 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TINF2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | TUBGCP6 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | DMPK | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | RANBP2 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SMC1A | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | LAMA2 | phenotype | C0026826 | GeneticVariation | 0.1 | disgenet |
| Hypertonia, Muscle | ERCC6 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | ABCA7 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| Hypertonia, Muscle | SLC6A19 | phenotype | C0026826 | Biomarker | 0.1 | disgenet |
| click here to return to the previous page | ||||||