| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spasm | OXT | phenotype | C0037763 | Biomarker | 0.3 | disgenet |
| Spasm | GCG | phenotype | C0037763 | Biomarker | 0.3 | disgenet |
| Spasm | KCNA1 | phenotype | C0037763 | GeneticVariation | 0.11 | disgenet |
| Spasm | PON1 | phenotype | C0037763 | Biomarker | 0.11 | disgenet |
| Spasm | COL4A1 | phenotype | C0037763 | GeneticVariation | 0.11 | disgenet |
| Spasm | KCNA1 | phenotype | C0037763 | Biomarker | 0.11 | disgenet |
| Spasm | PON1 | phenotype | C0037763 | GeneticVariation | 0.11 | disgenet |
| Spasm | COL4A1 | phenotype | C0037763 | Biomarker | 0.11 | disgenet |
| Spasm | ATXN2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SLC20A2 | phenotype | C0037763 | CausalMutation | 0.1 | disgenet |
| Spasm | CHCHD10 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SLC12A3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DLD | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FIG4 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | UBQLN2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GFPT1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CASR | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | RRM2B | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GNAS | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FLVCR1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | LDHA | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SMN2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MATR3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PINK1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DOK7 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PRKN | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GLT8D1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DGUOK | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | LRRK2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CFAP410 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SLC12A1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DMD | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GLA | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FBXO38 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FDX2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ATP6 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SCN4A | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | OPTN | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | HTRA2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GABRA3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | KCNJ1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TFG | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SLC25A4 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DNAJC6 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GBA | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PPARGC1A | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | STIM1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ALG2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DNA2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CPT2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DMD | phenotype | C0037763 | CausalMutation | 0.1 | disgenet |
| Spasm | ORAI1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TARDBP | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FKTN | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ATP1A1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SOD1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | VPS35 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ERBB4 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | LAMA2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GLE1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | HADHA | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | HINT1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CCNF | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | VPS13C | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ALG14 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CHMP2B | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TAF15 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | AMPD1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SUOX | phenotype | C0037763 | CausalMutation | 0.1 | disgenet |
| Spasm | TRPM6 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SNCA | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | AR | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DAO | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MPV17 | phenotype | C0037763 | CausalMutation | 0.1 | disgenet |
| Spasm | KY | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ANXA11 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CACNA1S | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | POMT1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GNA11 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CHRNE | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TRAPPC11 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GIGYF2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MORC2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ACADM | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | GMPPB | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | EPHA4 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MFN2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MPV17 | phenotype | C0037763 | GeneticVariation | 0.1 | disgenet |
| Spasm | NEFH | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MYH7 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | VCP | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CLCNKB | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CYP24A1 | phenotype | C0037763 | CausalMutation | 0.1 | disgenet |
| Spasm | PARK7 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | WASHC5 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CASQ1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | AMPD3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PGK1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TRPM7 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | UNC13A | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PON2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PODXL | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | VAPB | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SMN1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ISCU | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FKRP | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PSAT1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DCTN1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PFN1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ATP2A1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | POLG | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CRPPA | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CAV3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TWNK | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | OPA3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ANG | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | NEK1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | CLCN1 | phenotype | C0037763 | GeneticVariation | 0.1 | disgenet |
| Spasm | PON3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | MAP3K20 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TBK1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | UCHL1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | SQSTM1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | RTN2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | DPAGT1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | HSPB1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PHGDH | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ATXN3 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ACADVL | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PYROXD1 | phenotype | C0037763 | CausalMutation | 0.1 | disgenet |
| Spasm | DNAJC13 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | EIF4G1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | STX16 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | C9orf72 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | PRPH | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | KCNJ18 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ALDH18A1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | HADHB | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | HNRNPA1 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TREM2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | POLG2 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | ABCB6 | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | FUS | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | TRNW | phenotype | C0037763 | Biomarker | 0.1 | disgenet |
| Spasm | NOS3 | phenotype | C0037763 | GeneticVariation | 0.03 | disgenet |
| Spasm | NOS3 | phenotype | C0037763 | Biomarker | 0.03 | disgenet |
| Spasm | ADRB2 | phenotype | C0037763 | Biomarker | 0.02 | disgenet |
| Spasm | H3P9 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | SLC2A1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | EDN1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | STXBP1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | TOR1A | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | CCK | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | MECP2 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | ACE | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | CRH | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | MB | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | APC | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | CDKN2B | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | GFAP | phenotype | C0037763 | AlteredExpression | 0.01 | disgenet |
| Spasm | AMPH | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | MBP | phenotype | C0037763 | AlteredExpression | 0.01 | disgenet |
| Spasm | DPYSL5 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | CDKL5 | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | LGI1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | NTF3 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | POMC | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | MRPL28 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | SCN8A | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | PTS | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | NXT1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | KCNJ6 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | SUB1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | PART1 | phenotype | C0037763 | Biomarker | 0.01 | disgenet |
| Spasm | ARX | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | GAD2 | phenotype | C0037763 | AlteredExpression | 0.01 | disgenet |
| Spasm | PLCB1 | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
| Spasm | SGCD | phenotype | C0037763 | GeneticVariation | 0.01 | disgenet |
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