| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Macrostomia | ACTG1 | disease | C0024433 | Biomarker | 0.4 | disgenet |
| Macrostomia | FRAS1 | disease | C0024433 | Biomarker | 0.31 | disgenet |
| Macrostomia | FRAS1 | disease | C0024433 | GeneticVariation | 0.31 | disgenet |
| Macrostomia | PTCH2 | disease | C0024433 | GermlineCausalMutation | 0.3 | disgenet |
| Macrostomia | SPECC1L | disease | C0024433 | GermlineCausalMutation | 0.3 | disgenet |
| Macrostomia | UBE2A | disease | C0024433 | Biomarker | 0.11 | disgenet |
| Macrostomia | UBE2A | disease | C0024433 | GeneticVariation | 0.11 | disgenet |
| Macrostomia | TWIST2 | disease | C0024433 | Biomarker | 0.11 | disgenet |
| Macrostomia | TWIST2 | disease | C0024433 | GeneticVariation | 0.11 | disgenet |
| Macrostomia | SMARCA4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PIK3CA | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SH3PXD2B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SEC23A | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | AP4M1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | HDAC6 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | KCNH1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TCOF1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | FBN1 | disease | C0024433 | GeneticVariation | 0.1 | disgenet |
| Macrostomia | PACS1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | NALCN | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | STRADA | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ABCC9 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CD96 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | AP1S2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | POGZ | disease | C0024433 | CausalMutation | 0.1 | disgenet |
| Macrostomia | ADAMTSL2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ATP6V1B2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SET | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | RAI1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TRIP12 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | NXN | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | NSUN2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GNS | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | BAZ1B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | UBE3B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | DHCR7 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ERLIN2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ASXL3 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PGAP1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ABCC9 | disease | C0024433 | GeneticVariation | 0.1 | disgenet |
| Macrostomia | KCNJ8 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MTOR | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | LARP7 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PIGY | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | LIG4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CUL4B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | KLHL15 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PPM1D | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | INSR | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MAP2K1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | AP4E1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | DPF2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GALNS | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CENPF | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | BRPF1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | IDUA | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | LIMK1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ANKRD11 | disease | C0024433 | GeneticVariation | 0.1 | disgenet |
| Macrostomia | ANKRD11 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | NRXN1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GATAD2B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SMARCE1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | AGA | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ARID1B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SMARCB1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | DPYD | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ARID1A | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TMEM70 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SOX11 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SOX11 | disease | C0024433 | GeneticVariation | 0.1 | disgenet |
| Macrostomia | RPGRIP1L | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ZNF148 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CC2D2A | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ELN | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | AP4B1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | RPS6KA3 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SETBP1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CDKL5 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | POLR1C | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MECP2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | QRICH1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TTC37 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | B3GLCT | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PMM2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ALG9 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GTF2I | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PIGL | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PIGN | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | RFC2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | NONO | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GPC4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ARID2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SRCAP | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TCF4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ATIC | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TMEM67 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | KDM6B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | BRAF | disease | C0024433 | CausalMutation | 0.1 | disgenet |
| Macrostomia | POLR1D | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ATRX | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | AP4S1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | HUWE1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | WDR73 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | DACT1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ACTB | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | FLCN | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | HECW2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ARID1B | disease | C0024433 | CausalMutation | 0.1 | disgenet |
| Macrostomia | SMARCA2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CDC42 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | IRX5 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | FOXG1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PACS2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | WDR4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GJB2 | disease | C0024433 | CausalMutation | 0.1 | disgenet |
| Macrostomia | SF3B4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | RAF1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TBL2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SALL1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ZMYND11 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | KCNK4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ROR2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | UBE3A | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | IFT140 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | FUCA1 | disease | C0024433 | CausalMutation | 0.1 | disgenet |
| Macrostomia | GLB1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | OFD1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TALDO1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ACTL6B | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MED12 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MBD5 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ADSL | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | DDX11 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MGAT2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SOX4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GTF2IRD1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PSPH | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SOX4 | disease | C0024433 | GeneticVariation | 0.1 | disgenet |
| Macrostomia | GPC3 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | ZSWIM6 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | CLIP2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | STAG1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SNIP1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | RNF113A | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SSR4 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | STXBP1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | HNRNPH2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MED13L | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | NTNG1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | MKS1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | GABBR2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TMCO1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | TRRAP | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | SMARCC2 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | PTDSS1 | disease | C0024433 | Biomarker | 0.1 | disgenet |
| Macrostomia | DLG3 | disease | C0024433 | GeneticVariation | 0.01 | disgenet |
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