| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Malformations of Cortical Development, Group II | DYNC1H1 | disease | C1837249 | GeneticVariation | 0.44 | disgenet |
| Malformations of Cortical Development, Group II | DYNC1H1 | disease | C1837249 | Biomarker | 0.44 | disgenet |
| Malformations of Cortical Development, Group II | CDH2 | disease | C1837249 | Biomarker | 0.3 | disgenet |
| Malformations of Cortical Development, Group II | FLNA | disease | C1837249 | GeneticVariation | 0.15 | disgenet |
| Malformations of Cortical Development, Group II | FLNA | disease | C1837249 | Biomarker | 0.15 | disgenet |
| Malformations of Cortical Development, Group II | FLNA | disease | C1837249 | AlteredExpression | 0.15 | disgenet |
| Malformations of Cortical Development, Group II | DCX | disease | C1837249 | CausalMutation | 0.13 | disgenet |
| Malformations of Cortical Development, Group II | DCX | disease | C1837249 | AlteredExpression | 0.13 | disgenet |
| Malformations of Cortical Development, Group II | DCX | disease | C1837249 | GeneticVariation | 0.13 | disgenet |
| Malformations of Cortical Development, Group II | TUBA1A | disease | C1837249 | GeneticVariation | 0.12 | disgenet |
| Malformations of Cortical Development, Group II | TUBB3 | disease | C1837249 | Biomarker | 0.11 | disgenet |
| Malformations of Cortical Development, Group II | TUBB3 | disease | C1837249 | GeneticVariation | 0.11 | disgenet |
| Malformations of Cortical Development, Group II | SCN1A | disease | C1837249 | CausalMutation | 0.11 | disgenet |
| Malformations of Cortical Development, Group II | SCN1A | disease | C1837249 | GeneticVariation | 0.11 | disgenet |
| Malformations of Cortical Development, Group II | ASPM | disease | C1837249 | GeneticVariation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | USP45 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | ND5 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | LRAT | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | SPATA7 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX13 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX14 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNH | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | INPP5E | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TMEM216 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | LCA5 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | ND1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PCYT1A | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | ND4 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PDE6D | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNL1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | RD3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | EP300-AS1 | disease | C1837249 | GeneticVariation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | COX2 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | COX1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNQ | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | LARGE1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNF | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | GUCY2D | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | COX3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | MTOR | disease | C1837249 | CausalMutation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | CRB1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | AIPL1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | KIAA0753 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PDGFB | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | FGFR3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX10 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TMEM237 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | RPS6KA3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | XPR1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX19 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TMEM67 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | CEP290 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | MYORG | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX5 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | GDF6 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PLK4 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TMEM138 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | ZNF423 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | IQCB1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TUBGCP4 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | STX7 | disease | C1837249 | GeneticVariation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNS2 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | RPGRIP1L | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | CRX | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | IMPDH1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TULP1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TMEM231 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | ATP1A2 | disease | C1837249 | GeneticVariation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | IFT140 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | RDH12 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX26 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX2 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX6 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNW | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PDGFRB | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | FAM149B1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | RPE65 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | OFD1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | SCN1A-AS1 | disease | C1837249 | CausalMutation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | KCNJ13 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | CC2D2A | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | CPLANE1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | NMNAT1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | SLC20A2 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TUBGCP6 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX12 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | RPGRIP1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TCTN3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | NBN | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | WASHC5 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | ND6 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX16 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PEX11B | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | EIF2AK3 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | TRNS1 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | CCDC22 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | KIF7 | disease | C1837249 | Biomarker | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | EP300 | disease | C1837249 | GeneticVariation | 0.1 | disgenet |
| Malformations of Cortical Development, Group II | PAFAH1B1 | disease | C1837249 | AlteredExpression | 0.06 | disgenet |
| Malformations of Cortical Development, Group II | PAFAH1B1 | disease | C1837249 | Biomarker | 0.06 | disgenet |
| Malformations of Cortical Development, Group II | PAFAH1B1 | disease | C1837249 | GeneticVariation | 0.06 | disgenet |
| Malformations of Cortical Development, Group II | ACTB | disease | C1837249 | GeneticVariation | 0.04 | disgenet |
| Malformations of Cortical Development, Group II | ACTB | disease | C1837249 | Biomarker | 0.04 | disgenet |
| Malformations of Cortical Development, Group II | CDC42 | disease | C1837249 | AlteredExpression | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | CDK5 | disease | C1837249 | Biomarker | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | DAB1 | disease | C1837249 | AlteredExpression | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | DAG1 | disease | C1837249 | Biomarker | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | PROKR2 | disease | C1837249 | GeneticVariation | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | DCDC2 | disease | C1837249 | AlteredExpression | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | RELN | disease | C1837249 | Biomarker | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | ARX | disease | C1837249 | Biomarker | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | CDK5 | disease | C1837249 | PosttranslationalModification | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | PROKR2 | disease | C1837249 | Biomarker | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | RELN | disease | C1837249 | AlteredExpression | 0.02 | disgenet |
| Malformations of Cortical Development, Group II | MALT1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | C5AR1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | EPHA4 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | SMOC1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | C5 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | THBS1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PFKFB4 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ATOH1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | RHOA | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PRMT6 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | RAB23 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | LOC102724971 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | FBXO41 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | SOX10 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ABL1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | LAMA1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | MAP2K7 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ITGB1 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | CTNND1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | FGF13 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | TMEM94 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PCM1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | TUBA1B | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | LPAR4 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | CDC42SE1 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PTPN4 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | FMR1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PREX1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | SOX2 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | RBM4 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | MASP2 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PKD1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | KIAA0319 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | MAP2K1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | MYH9 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | MIR202 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PROK2 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | YAP1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ATOX1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | HECTD1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | HTC2 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | PIK3C3 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | IP6K1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ABI2 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | IPMK | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | RTTN | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | TBC1D8B | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | IGHV3OR16-7 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ROBO1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | RAB8A | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | IPO8 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | CCR7 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ZEB1 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | CPE | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | CDYL | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | LDHA | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | NEUROD1 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | KIAA0319L | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ARFGEF2 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | LOC102723407 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | SDC2 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ZBTB18 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | IGHV3-69-1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | DMD | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | RET | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | FOXG1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | EBF3 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | TUBA8 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | INTS8 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | IQGAP1 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | S100A6 | disease | C1837249 | AlteredExpression | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | ZNF513 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | LIN7B | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | POMT1 | disease | C1837249 | GeneticVariation | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | BICD2 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | FHOD1 | disease | C1837249 | Biomarker | 0.01 | disgenet |
| Malformations of Cortical Development, Group II | OCRL | disease | C1837249 | Biomarker | 0.01 | disgenet |
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