| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Malformation, Nervous System | PAX3 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | CRBN | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | HOXB1 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | ACTG1 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | ACTB | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | FGD1 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | HOXA1 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | L2HGDH | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | SPRED1 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | PAX6 | group | C0497552 | Biomarker | 0.3 | disgenet |
| Malformation, Nervous System | TP73 | group | C0497552 | Biomarker | 0.2 | disgenet |
| Malformation, Nervous System | HBB | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | TRPS1 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | GJB2 | group | C0497552 | GeneticVariation | 0.1 | disgenet |
| Malformation, Nervous System | TP63 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | SCN9A | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | COL1A2 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | PDGFRA | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | PRKCSH | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | CD244 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | CEP290 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | COL1A1 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | ADH1B | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | IL10 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | SLC7A9 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | GABRA2 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | NFKBIL1 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | PGAP3 | group | C0497552 | GeneticVariation | 0.1 | disgenet |
| Malformation, Nervous System | SLC3A1 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | PADI4 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | PTPN22 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | CIITA | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | GALC | group | C0497552 | GeneticVariation | 0.1 | disgenet |
| Malformation, Nervous System | ADH1C | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | SLC22A4 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | PROC | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | HTR2A | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | ABCA12 | group | C0497552 | Biomarker | 0.1 | disgenet |
| Malformation, Nervous System | ECM1 | group | C0497552 | GeneticVariation | 0.02 | disgenet |
| Malformation, Nervous System | NFIA | group | C0497552 | GeneticVariation | 0.02 | disgenet |
| Malformation, Nervous System | HTT | group | C0497552 | GeneticVariation | 0.02 | disgenet |
| Malformation, Nervous System | NFIA | group | C0497552 | Biomarker | 0.02 | disgenet |
| Malformation, Nervous System | GH1 | group | C0497552 | Biomarker | 0.02 | disgenet |
| Malformation, Nervous System | CHRNG | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | CRP | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | S100B | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | SACS | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | AFP | group | C0497552 | AlteredExpression | 0.01 | disgenet |
| Malformation, Nervous System | TTK | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | GJB1 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | HRAS | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | RASA1 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | GAD1 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | SLC16A2 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | CEP83 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | RPS27 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | AGPAT1 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | MME | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | MAT1A | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | NR1H2 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | PMP22 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | MPEG1 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | STAT3 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | MMP9 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | FGFR2 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | TTR | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | IDUA | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | DNM2 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | PHYH | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | MECP2 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | CXCL8 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | GLB1 | group | C0497552 | AlteredExpression | 0.01 | disgenet |
| Malformation, Nervous System | FKRP | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | MFN2 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | AMN | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | CASP6 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | NPHP3 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | MEF2C | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | RAB3GAP2 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | S100A1 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | TNF | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | ALX3 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | NKX2-1 | group | C0497552 | GeneticVariation | 0.01 | disgenet |
| Malformation, Nervous System | CUBN | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | LRP2 | group | C0497552 | Biomarker | 0.01 | disgenet |
| Malformation, Nervous System | CACNA1D | NA | C0497552 | NA | NA | orphanet |
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