| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Megalencephaly | TBC1D7 | disease | C0221355 | Biomarker | 0.62 | orphanet , disgenet |
| Megalencephaly | TBC1D7 | disease | C0221355 | GermlineCausalMutation | 0.62 | orphanet , disgenet |
| Megalencephaly | TBC1D7 | disease | C0221355 | GeneticVariation | 0.62 | orphanet , disgenet |
| Megalencephaly | PTEN | disease | C0221355 | GeneticVariation | 0.5 | disgenet |
| Megalencephaly | PTEN | disease | C0221355 | Biomarker | 0.5 | disgenet |
| Megalencephaly | CHD8 | disease | C0221355 | Biomarker | 0.49 | disgenet |
| Megalencephaly | CHD8 | disease | C0221355 | GeneticVariation | 0.49 | disgenet |
| Megalencephaly | CHD3 | disease | C0221355 | Biomarker | 0.44 | disgenet |
| Megalencephaly | CHD3 | disease | C0221355 | GeneticVariation | 0.44 | disgenet |
| Megalencephaly | BRWD3 | disease | C0221355 | Biomarker | 0.43 | disgenet |
| Megalencephaly | BRWD3 | disease | C0221355 | GeneticVariation | 0.43 | disgenet |
| Megalencephaly | NFIB | disease | C0221355 | GeneticVariation | 0.41 | disgenet |
| Megalencephaly | NFIB | disease | C0221355 | Biomarker | 0.41 | disgenet |
| Megalencephaly | CCND2 | disease | C0221355 | Biomarker | 0.4 | orphanet , disgenet |
| Megalencephaly | THRA | disease | C0221355 | Biomarker | 0.31 | disgenet |
| Megalencephaly | ODC1 | disease | C0221355 | Biomarker | 0.31 | orphanet , disgenet |
| Megalencephaly | THRA | disease | C0221355 | GeneticVariation | 0.31 | disgenet |
| Megalencephaly | ODC1 | disease | C0221355 | GeneticVariation | 0.31 | orphanet , disgenet |
| Megalencephaly | TET3 | disease | C0221355 | Biomarker | 0.3 | disgenet |
| Megalencephaly | CACNA1E | disease | C0221355 | Biomarker | 0.3 | disgenet |
| Megalencephaly | MTOR | disease | C0221355 | Biomarker | 0.2 | orphanet , disgenet |
| Megalencephaly | PIK3CA | disease | C0221355 | GeneticVariation | 0.2 | disgenet |
| Megalencephaly | AKT1 | disease | C0221355 | Biomarker | 0.2 | disgenet |
| Megalencephaly | PIK3CA | disease | C0221355 | Biomarker | 0.2 | disgenet |
| Megalencephaly | MTOR | disease | C0221355 | GeneticVariation | 0.2 | orphanet , disgenet |
| Megalencephaly | AKT1 | disease | C0221355 | GeneticVariation | 0.2 | disgenet |
| Megalencephaly | AKT3 | disease | C0221355 | Biomarker | 0.17 | orphanet , disgenet |
| Megalencephaly | AKT3 | disease | C0221355 | GeneticVariation | 0.17 | orphanet , disgenet |
| Megalencephaly | MLC1 | disease | C0221355 | GeneticVariation | 0.14 | disgenet |
| Megalencephaly | MLC1 | disease | C0221355 | AlteredExpression | 0.14 | disgenet |
| Megalencephaly | MLC1 | disease | C0221355 | Biomarker | 0.14 | disgenet |
| Megalencephaly | SPRED1 | disease | C0221355 | GeneticVariation | 0.14 | disgenet |
| Megalencephaly | SPRED1 | disease | C0221355 | Biomarker | 0.14 | disgenet |
| Megalencephaly | NSD1 | disease | C0221355 | Biomarker | 0.13 | disgenet |
| Megalencephaly | NSD1 | disease | C0221355 | GeneticVariation | 0.13 | disgenet |
| Megalencephaly | HERC1 | disease | C0221355 | Biomarker | 0.12 | orphanet , disgenet |
| Megalencephaly | HEPACAM | disease | C0221355 | Biomarker | 0.12 | disgenet |
| Megalencephaly | HEPACAM | disease | C0221355 | GeneticVariation | 0.12 | disgenet |
| Megalencephaly | KPTN | disease | C0221355 | Biomarker | 0.12 | orphanet , disgenet |
| Megalencephaly | KPTN | disease | C0221355 | GeneticVariation | 0.12 | orphanet , disgenet |
| Megalencephaly | PIK3R2 | disease | C0221355 | GeneticVariation | 0.12 | orphanet , disgenet |
| Megalencephaly | PIK3R2 | disease | C0221355 | Biomarker | 0.12 | orphanet , disgenet |
| Megalencephaly | HERC1 | disease | C0221355 | GeneticVariation | 0.12 | orphanet , disgenet |
| Megalencephaly | PPP2R5D | disease | C0221355 | GeneticVariation | 0.11 | orphanet , disgenet |
| Megalencephaly | KIF7 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | NFIX | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | OFD1 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | COL2A1 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | CRADD | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | PTCH1 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | PTCH1 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | PPP2R5D | disease | C0221355 | Biomarker | 0.11 | orphanet , disgenet |
| Megalencephaly | NFIA | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | PPP1CB | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | COL2A1 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | RAB39B | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | CRADD | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | LRP5 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | CHD4 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | PAK3 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | NFIA | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | LRP5 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | SOX9 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | PAK3 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | ASXL2 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | POMK | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | HRAS | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | DNMT3A | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | NF1 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | NF1 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | SOX9 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | KIF7 | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | HRAS | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | POMK | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | CHD4 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | NFIX | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | OFD1 | disease | C0221355 | Biomarker | 0.11 | disgenet |
| Megalencephaly | RAB39B | disease | C0221355 | GeneticVariation | 0.11 | disgenet |
| Megalencephaly | TNFRSF11A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SLC9A7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KMT2E | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CHRNA7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | POMT2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CAMTA1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CLCN4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KDM5C | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ERMARD | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EML1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | B4GALT1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TMCO1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CWC27 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FGFR1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GABBR2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TCF12 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZDHHC9 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CHD1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | YME1L1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NRAS | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TBX6 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FBN1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZNF711 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX6 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ARSB | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DAG1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GPC3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PDSS1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ALKBH8 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KCNJ1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | AFF2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | POMGNT2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | B4GAT1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MOCS2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | WASHC5 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FKTN | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SNX10 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PHF6 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MAP2K2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FLI1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SEC23B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | BRAF | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ACADM | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NLRP3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZBTB42 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FAM111A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DVL1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MGAT2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | B3GALNT2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | BMP2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZBTB20 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PLCB4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DIS3L2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZNF469 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CRPPA | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DNMT3B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX10 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FTSJ1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | WDR81 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GRIA3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DPYD | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EIF2B3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZNF41 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TMEM67 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX11B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HSD17B4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TWIST1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NOTCH2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SLC29A3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CXorf56 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | POMGNT1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | LRP2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | BMPR1A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EZH2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CCDC22 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | AGGF1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SLC35D1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MID2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HES7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MPDZ | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | INPP5E | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EIF2B1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SETD2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ARX | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MSX2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HELLS | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MESP2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | POC1A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | APC2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SMS | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SUZ12 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GLI3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ACADVL | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | LBR | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ABCC9 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PTCHD1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KRAS | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | STRADA | disease | C0221355 | Biomarker | 0.1 | orphanet , disgenet |
| Megalencephaly | UPF3B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KIAA1109 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GDI1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CCNK | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | WNT5A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DVL3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | UBE2A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CC2D2A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | AP1S2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | B3GLCT | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | LFNG | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ETFB | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | UBE3A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SMARCB1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | OPHN1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MAP2K1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KIF22 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FKRP | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DLG3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TNFSF11 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NONO | disease | C0221355 | Biomarker | 0.1 | orphanet , disgenet |
| Megalencephaly | PEX13 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RNF135 | disease | C0221355 | Biomarker | 0.1 | orphanet , disgenet |
| Megalencephaly | IDUA | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FOXP1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TMEM216 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CAMK2G | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ANK3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RUNX2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ETFDH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | L2HGDH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HEXB | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PITX1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX26 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PIGN | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SDHD | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EDN1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FRMPD4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EIF2B4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TRIP11 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DLL3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SH2B1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SDHC | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZNF81 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | WDR35 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HCFC1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DYNC2H1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | C12orf57 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZBTB24 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TSPAN7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HDAC6 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CSF1R | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | AMER1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ARHGEF6 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PIGT | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SUFU | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MAN2B1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TUBB3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SLC2A1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX5 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX12 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HUWE1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ROR2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MED12 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PIGA | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | INPPL1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KLLN | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | B4GALT7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | LARGE1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ADK | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PLG | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SOST | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX19 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HOXD13 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SIX2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GNAQ | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DICER1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EED | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EIF2B2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RIPPLY2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TBX15 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TCIRG1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RXYLT1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MTM1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FGFR3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MECP2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SDHB | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SHANK3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MYMK | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TNFRSF11B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX16 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | WDR34 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | AGTR2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DMD | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | IQSEC2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CUL4B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | IFT80 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | USP9X | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RAC1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NXN | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | USP27X | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EIF2B5 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MOCS1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ACSL4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CDCA7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | EXT2 | disease | C0221355 | Biomarker | 0.1 | orphanet , disgenet |
| Megalencephaly | SEC23A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | IL1RAPL1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PTHLH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SYN1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | WDR60 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FZD2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NLRC4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | L1CAM | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | IGBP1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | IDS | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SLC2A10 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MITF | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PTCH2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GPC4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PTDSS1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SIM1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | IHH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | MACROH2A1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SLC26A2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SHOC2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | KCNJ8 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SUMF1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | DHCR24 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RPGRIP1L | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ANKH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SHPK | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FMR1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GCDH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | TRIM37 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SEC24D | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SOS1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CCDC28B | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | SYP | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | POLR3A | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | LRP4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | BBS1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | D2HGDH | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | COL4A1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GNAS | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ALG13 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | BICD2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GUSB | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CLCN7 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | HDAC4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | POMT1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | H1-4 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RPS6KA3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | FGFR2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ANTXR2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RNF125 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | RAF1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ZIC1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GJA1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | CNKSR2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | NKX3-2 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | LAMB1 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ASPA | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | GNAI3 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | ETFA | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PEX14 | disease | C0221355 | Biomarker | 0.1 | disgenet |
| Megalencephaly | PIK3CG | disease | C0221355 | GeneticVariation | 0.08 | disgenet |
| Megalencephaly | PIK3CD | disease | C0221355 | Biomarker | 0.08 | disgenet |
| Megalencephaly | PIK3CG | disease | C0221355 | Biomarker | 0.08 | disgenet |
| Megalencephaly | PIK3CD | disease | C0221355 | GeneticVariation | 0.08 | disgenet |
| Megalencephaly | PIK3CB | disease | C0221355 | Biomarker | 0.08 | disgenet |
| Megalencephaly | PIK3CB | disease | C0221355 | GeneticVariation | 0.08 | disgenet |
| Megalencephaly | LEMD3 | disease | C0221355 | GeneticVariation | 0.02 | disgenet |
| Megalencephaly | LEMD3 | disease | C0221355 | Biomarker | 0.02 | disgenet |
| Megalencephaly | HTC2 | disease | C0221355 | GeneticVariation | 0.02 | disgenet |
| Megalencephaly | HTC2 | disease | C0221355 | Biomarker | 0.02 | disgenet |
| Megalencephaly | PAK1 | disease | C0221355 | GeneticVariation | 0.02 | disgenet |
| Megalencephaly | HP | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | ASXL3 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | CSF2 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | HMGA2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | GABARAP | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | SNORD116@ | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | HMMR | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | TNFSF13 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | FOXG1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | STXBP1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | PTENP1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | KCTD13 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | CDKL5 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | ASXL1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | RHEB | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | PARVB | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | SMARCA1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | ZBTB7A | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | LILRB1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | RRAS2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | LINGO2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | PAX1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | NTM | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | CASP2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | CTDNEP1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | DYRK1A | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | CRK | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | GATAD2B | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | RIN2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | RPS19 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | TSC2 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | MIR876 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | RNASET2 | disease | C0221355 | Biomarker | 0.01 | orphanet , disgenet |
| Megalencephaly | NOTCH2NLB | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | LAMC2 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | NCAM2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | NOTCH2NLA | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | WDFY3 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | SUPT16H | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | MYC | disease | C0221355 | AlteredExpression | 0.01 | disgenet |
| Megalencephaly | STK3 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | MAST1 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | PIGM | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | NT5E | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | STX16 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | SZT2 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | SULT4A1 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | NOTCH2NLC | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | OFC2 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | TPTE | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | GFAP | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | GH1 | disease | C0221355 | Biomarker | 0.01 | disgenet |
| Megalencephaly | MCL1 | disease | C0221355 | GeneticVariation | 0.01 | disgenet |
| Megalencephaly | NDUFA2 | NA | C0221355 | NA | NA | orphanet |
| Megalencephaly | SNX14 | NA | C0221355 | NA | NA | orphanet |
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