| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Abnormalities, Craniofacial | TCOF1 | group | C0376634 | GeneticVariation | 0.35 | disgenet |
| Abnormalities, Craniofacial | TCOF1 | group | C0376634 | Biomarker | 0.35 | disgenet |
| Abnormalities, Craniofacial | SATB2 | group | C0376634 | Biomarker | 0.33 | disgenet |
| Abnormalities, Craniofacial | VSX1 | group | C0376634 | Biomarker | 0.32 | disgenet |
| Abnormalities, Craniofacial | VSX1 | group | C0376634 | GeneticVariation | 0.32 | disgenet |
| Abnormalities, Craniofacial | FGFR2 | group | C0376634 | GeneticVariation | 0.32 | disgenet |
| Abnormalities, Craniofacial | FGF8 | group | C0376634 | Biomarker | 0.32 | disgenet |
| Abnormalities, Craniofacial | LMNA | group | C0376634 | Biomarker | 0.32 | disgenet |
| Abnormalities, Craniofacial | TBX1 | group | C0376634 | Biomarker | 0.32 | disgenet |
| Abnormalities, Craniofacial | FGFR2 | group | C0376634 | Biomarker | 0.32 | disgenet |
| Abnormalities, Craniofacial | MSX2 | group | C0376634 | AlteredExpression | 0.32 | disgenet |
| Abnormalities, Craniofacial | MSX2 | group | C0376634 | Biomarker | 0.32 | disgenet |
| Abnormalities, Craniofacial | FGFR2 | group | C0376634 | AlteredExpression | 0.32 | disgenet |
| Abnormalities, Craniofacial | FGF8 | group | C0376634 | GeneticVariation | 0.32 | disgenet |
| Abnormalities, Craniofacial | TBX1 | group | C0376634 | GeneticVariation | 0.32 | disgenet |
| Abnormalities, Craniofacial | LTBP3 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | LTBP3 | group | C0376634 | GeneticVariation | 0.31 | disgenet |
| Abnormalities, Craniofacial | SOX9 | group | C0376634 | GeneticVariation | 0.31 | disgenet |
| Abnormalities, Craniofacial | TRPS1 | group | C0376634 | GeneticVariation | 0.31 | disgenet |
| Abnormalities, Craniofacial | NDST1 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | EYA1 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | PDGFRA | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | SOX9 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | HSPG2 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | TRPS1 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | RUNX2 | group | C0376634 | GeneticVariation | 0.31 | disgenet |
| Abnormalities, Craniofacial | MSX1 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | SIX1 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | DLX5 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | TP63 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | RUNX2 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | GTF2IRD1 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | GPC4 | group | C0376634 | Biomarker | 0.31 | disgenet |
| Abnormalities, Craniofacial | GTF2IRD1 | group | C0376634 | GeneticVariation | 0.31 | disgenet |
| Abnormalities, Craniofacial | RDH10 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TCF4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SETBP1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ECE1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | B3GAT3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | UXS1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ACTB | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | IDH2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | KIF3A | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | COL2A1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ALX4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | BNC2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | HOXB1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RHOA | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MMP13 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TBCE | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | COL11A2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | CSNK1A1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RAI1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | HOXA3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DLX1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MASP1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | EGFR | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | GP1BB | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SMAD3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TFAP2A | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | UFD1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SALL4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | UBE3A | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SKI | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TBX15 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | HYDIN2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | LPAR1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | JAG2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | STRA6 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ITGB1BP1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PBX4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | NIPBL | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SIN3A | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | IRX5 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PHEX | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | B4GALT7 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SIM2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RYK | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | EP300 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ERCC6 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ZIC3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | BMPR1B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FZD4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | GNAQ | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | GSC | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RAX | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FGD1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SPRY2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | GPC6 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ZIC5 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PAX3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SURF1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MSL3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ACTG1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | CHST14 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TGFBR2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FOXC2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | H4C3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ERF | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ALX1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FOXP2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TGFB2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | KANSL1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MECP2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | LRP2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | HOXA1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FADD | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PTCH1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MMP2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | THRB | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | IRF6 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ANKH | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SMAD4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FOLR1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MNT | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | CTNNB1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | GATA2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ANXA1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | KIAA0586 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SLC26A2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SMAD2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SRP68 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | UNC45B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | EDN1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | HMX1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | NRXN1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PTEN | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PRKRA | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ZMPSTE24 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PITX2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | EDNRA | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SH3PXD2B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | CECR | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DNMT3B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RAD23B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | COLEC11 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DNMT3A | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RAB39B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RCAN1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SLC35D1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FAM83H | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SEC61A1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | LETM1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ATRX | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | HAPLN1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ATP6AP2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DLX6 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FOXI1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | RAB40AL | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | ETS2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DLX2 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | BMPR1A | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TMCO1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DCAF7 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FGF3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TFAP2B | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TRIM37 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | APAF1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | SALL3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | COL11A1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | GABRB3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | CNTN4 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FMR1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | PAX6 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | DLL3 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | NOTCH1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | MBTPS1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | FGFR1 | group | C0376634 | Biomarker | 0.3 | disgenet |
| Abnormalities, Craniofacial | TP53 | group | C0376634 | AlteredExpression | 0.22 | disgenet |
| Abnormalities, Craniofacial | TP53 | group | C0376634 | Biomarker | 0.22 | disgenet |
| Abnormalities, Craniofacial | PHF21A | group | C0376634 | GeneticVariation | 0.07 | disgenet |
| Abnormalities, Craniofacial | PHF21A | group | C0376634 | AlteredExpression | 0.07 | disgenet |
| Abnormalities, Craniofacial | PHF21A | group | C0376634 | Biomarker | 0.07 | disgenet |
| Abnormalities, Craniofacial | NHLH1 | group | C0376634 | Biomarker | 0.02 | disgenet |
| Abnormalities, Craniofacial | SETD1B | group | C0376634 | Biomarker | 0.02 | disgenet |
| Abnormalities, Craniofacial | MN1 | group | C0376634 | GeneticVariation | 0.02 | disgenet |
| Abnormalities, Craniofacial | SETD1B | group | C0376634 | GeneticVariation | 0.02 | disgenet |
| Abnormalities, Craniofacial | CSGALNACT1 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | CHRD | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | KDM2B | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | AXIN2 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | DVL2 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | DCHS1 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | HPD | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | CDKAL1 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | GLI2 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | HYAL2 | group | C0376634 | Biomarker | 0.01 | orphanet , disgenet |
| Abnormalities, Craniofacial | ASXL3 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | EFNB1 | group | C0376634 | AlteredExpression | 0.01 | disgenet |
| Abnormalities, Craniofacial | SCFD1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | ALX3 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | DYRK1A | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | BARX2 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | CCN6 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | EIF4A3 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | CHD8 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | TBCA | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | TGFA | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | PTH | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | EPHX1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | ACAN | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | TWIST1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | CRY2 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | IDUA | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | UVRAG | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | GREB1L | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | GPATCH3 | group | C0376634 | AlteredExpression | 0.01 | disgenet |
| Abnormalities, Craniofacial | ZNF462 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | ESCO2 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | INTS1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | HLA-A | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | TASP1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | PSS | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | SP7 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | GTF2I | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | SHH | group | C0376634 | AlteredExpression | 0.01 | disgenet |
| Abnormalities, Craniofacial | FLI1 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | MED13L | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | AGO2 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | GLI3 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | ETS1 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | CYP2C9 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | PKD2 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | RPE65 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | TMEM87B | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | LINGO2 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | SPECC1L | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | CHDH | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | TMEM165 | group | C0376634 | AlteredExpression | 0.01 | disgenet |
| Abnormalities, Craniofacial | CHD7 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | DHCR7 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | DCPS | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | POLR1A | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | PAPPA | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | FBLN7 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | DLG1 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | CKAP4 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | RIT1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | BCL2 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | ANKRD11 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | HMGCS1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | CYP26B1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | MMACHC | group | C0376634 | AlteredExpression | 0.01 | disgenet |
| Abnormalities, Craniofacial | GLRA4 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | MIR876 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | SOX4 | group | C0376634 | Biomarker | 0.01 | disgenet |
| Abnormalities, Craniofacial | MIR873 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | HCFC1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | JAG1 | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | NFIA | group | C0376634 | GeneticVariation | 0.01 | disgenet |
| Abnormalities, Craniofacial | PACS1 | NA | C0376634 | NA | NA | orphanet |
| Abnormalities, Craniofacial | FBXL4 | NA | C0376634 | NA | NA | orphanet |
| Abnormalities, Craniofacial | KAT6A | NA | C0376634 | NA | NA | orphanet |
| Abnormalities, Craniofacial | CHD1 | NA | C0376634 | NA | NA | orphanet |
| Abnormalities, Craniofacial | HNRNPK | NA | C0376634 | NA | NA | orphanet |
| Abnormalities, Craniofacial | DPH1 | NA | C0376634 | NA | NA | orphanet |
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