| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Error, Inborn Metabolism | MMUT | group | C0025521 | GeneticVariation | 0.32 | disgenet |
| Error, Inborn Metabolism | MMUT | group | C0025521 | Biomarker | 0.32 | disgenet |
| Error, Inborn Metabolism | ITPA | group | C0025521 | Biomarker | 0.31 | disgenet |
| Error, Inborn Metabolism | TPI1 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | SLC2A1 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | PLA2G4A | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | CES1 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | LDHB | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | DHFR | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | DIO1 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | ABCD4 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | AGXT2 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | PLA2G7 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | ADAMTSL2 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | LEPR | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | MYO5B | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | SELENBP1 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | SERPINA7 | group | C0025521 | Biomarker | 0.3 | disgenet |
| Error, Inborn Metabolism | MOCS2 | group | C0025521 | Biomarker | 0.2 | disgenet |
| Error, Inborn Metabolism | PAH | group | C0025521 | Biomarker | 0.08 | disgenet |
| Error, Inborn Metabolism | PAH | group | C0025521 | GeneticVariation | 0.08 | disgenet |
| Error, Inborn Metabolism | ALPL | group | C0025521 | Biomarker | 0.08 | disgenet |
| Error, Inborn Metabolism | ALPL | group | C0025521 | GeneticVariation | 0.08 | disgenet |
| Error, Inborn Metabolism | CBS | group | C0025521 | GeneticVariation | 0.06 | disgenet |
| Error, Inborn Metabolism | CBS | group | C0025521 | Biomarker | 0.06 | disgenet |
| Error, Inborn Metabolism | STS | group | C0025521 | AlteredExpression | 0.04 | disgenet |
| Error, Inborn Metabolism | STS | group | C0025521 | Biomarker | 0.04 | disgenet |
| Error, Inborn Metabolism | STS | group | C0025521 | GeneticVariation | 0.04 | disgenet |
| Error, Inborn Metabolism | CBSL | group | C0025521 | Biomarker | 0.04 | disgenet |
| Error, Inborn Metabolism | ECHS1 | group | C0025521 | GeneticVariation | 0.03 | disgenet |
| Error, Inborn Metabolism | GALT | group | C0025521 | GeneticVariation | 0.03 | disgenet |
| Error, Inborn Metabolism | GCDH | group | C0025521 | Biomarker | 0.03 | disgenet |
| Error, Inborn Metabolism | ACY1 | group | C0025521 | Biomarker | 0.03 | disgenet |
| Error, Inborn Metabolism | ECHS1 | group | C0025521 | Biomarker | 0.03 | disgenet |
| Error, Inborn Metabolism | GLA | group | C0025521 | AlteredExpression | 0.03 | disgenet |
| Error, Inborn Metabolism | CYP27A1 | group | C0025521 | GeneticVariation | 0.03 | disgenet |
| Error, Inborn Metabolism | OTC | group | C0025521 | Biomarker | 0.03 | disgenet |
| Error, Inborn Metabolism | HGD | group | C0025521 | GeneticVariation | 0.03 | disgenet |
| Error, Inborn Metabolism | CYP27A1 | group | C0025521 | Biomarker | 0.03 | disgenet |
| Error, Inborn Metabolism | ACADM | group | C0025521 | Biomarker | 0.03 | disgenet |
| Error, Inborn Metabolism | ACADM | group | C0025521 | GeneticVariation | 0.03 | disgenet |
| Error, Inborn Metabolism | GALT | group | C0025521 | AlteredExpression | 0.03 | disgenet |
| Error, Inborn Metabolism | HMBS | group | C0025521 | AlteredExpression | 0.02 | disgenet |
| Error, Inborn Metabolism | ASS1 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | ACAT1 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | ADSL | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | TTK | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | RPS27 | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | DMGDH | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | IDUA | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | G6PD | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | MLYCD | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | G6PD | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | IDUA | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | ADSL | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | MPEG1 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | CA2 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | CA2 | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | MPEG1 | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | TTK | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | RPS27 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | HPRT1 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | GALE | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | GALE | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | UROS | group | C0025521 | AlteredExpression | 0.02 | disgenet |
| Error, Inborn Metabolism | SERPINA1 | group | C0025521 | Biomarker | 0.02 | disgenet |
| Error, Inborn Metabolism | MLYCD | group | C0025521 | GeneticVariation | 0.02 | disgenet |
| Error, Inborn Metabolism | DPYD | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | GNMT | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | NPC1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | GLS | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | TKT | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | SCO2 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | ATP7B | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | COQ9 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | HEXA | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | TAT | group | C0025521 | AlteredExpression | 0.01 | disgenet |
| Error, Inborn Metabolism | HIBCH | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | ZNF185 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | PDHA1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | MRC1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | FUT1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | KIFBP | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | ASPA | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | SMPD1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | ASNS | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | AGXT | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | FGF21 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC46A1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC28A1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | GH1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | GALK1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | PMM2 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | TAZ | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | NAGS | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | MMAA | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | TYMP | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | PSD | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | MVK | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | SUOX | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | ARG1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | CHKB | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC5A7 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | SUMF1 | group | C0025521 | AlteredExpression | 0.01 | disgenet |
| Error, Inborn Metabolism | ACSF3 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | OAT | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | PPIG | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | ALG11 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | LYPD4 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | FXN | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | GK | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | HSD17B10 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC25A13 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | LCAT | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | LIPT1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | GLB1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | HTRA2 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | PRL | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | PANK2 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | HAO1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | HADHA | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | MTHFD1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | FLAD1 | group | C0025521 | AlteredExpression | 0.01 | disgenet |
| Error, Inborn Metabolism | MUC1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | H19 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | LINC01672 | group | C0025521 | AlteredExpression | 0.01 | disgenet |
| Error, Inborn Metabolism | TCN2 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | HEXB | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | MTHFR | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC37A4 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC25A20 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | FAH | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | SLC10A1 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | EIM | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | HAO2 | group | C0025521 | Biomarker | 0.01 | disgenet |
| Error, Inborn Metabolism | SGPL1 | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | TNKS | group | C0025521 | GeneticVariation | 0.01 | disgenet |
| Error, Inborn Metabolism | GPD1 | group | C0025521 | Biomarker | 0.01 | disgenet |
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