| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Abnormalities, Multiple | CTNNB1 | group | C0000772 | GeneticVariation | 0.4 | disgenet |
| Abnormalities, Multiple | CTNNB1 | group | C0000772 | CausalMutation | 0.4 | disgenet |
| Abnormalities, Multiple | PTEN | group | C0000772 | GeneticVariation | 0.4 | disgenet |
| Abnormalities, Multiple | FGFR2 | group | C0000772 | Biomarker | 0.4 | disgenet |
| Abnormalities, Multiple | FGFR2 | group | C0000772 | GeneticVariation | 0.4 | disgenet |
| Abnormalities, Multiple | CTNNB1 | group | C0000772 | Biomarker | 0.4 | disgenet |
| Abnormalities, Multiple | PTEN | group | C0000772 | Biomarker | 0.4 | disgenet |
| Abnormalities, Multiple | FGFR2 | group | C0000772 | CausalMutation | 0.4 | disgenet |
| Abnormalities, Multiple | TP63 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | CHUK | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | LEFTY2 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | POLD1 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | GPER1 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | NADSYN1 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | SETBP1 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | GSK3B | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | ARNTL | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | CECR | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | KYNU | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | AFF4 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | NRXN1 | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | HAAO | group | C0000772 | Biomarker | 0.3 | disgenet |
| Abnormalities, Multiple | NF1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | C10orf105 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | HADHA | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CTCF | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ZBTB18 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SATB2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CDC42 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | KMT2D | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GLE1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ASPM | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ATP8B1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | KRT12 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SPNS2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | PTPN11 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | FBN1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | KIF1A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SETD5 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | METTL23 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NRP2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | COL11A2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SOX11 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PLP1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DNAH5 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | KDM6A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CYP21A2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | BMP7 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | BCL11B | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ETV6 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RBPJ | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | COQ4 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RPL5 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SRCAP | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ACAN | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TMCO1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DLL4 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | HRAS | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CHRNG | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MYO15A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RECQL4 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MYO15A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CHAMP1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | THOC6 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SMARCB1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | FLT4 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TRPS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | COL11A1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ASPM | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SMC1A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TWIST2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CCND2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CHMP1A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MED12 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | MSMO1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RAB3GAP1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ATRX | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TRMU | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CACNA1A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | UBE3B | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NSD1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TMEM151B | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NFIA | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NHS | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | AARS2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PIK3R2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | FGD1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | GNPTAB | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DHCR7 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TMEM216 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PAX2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PYCR1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | B3GALNT2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | PIEZO2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TMEM67 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SAMD9 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DYRK1A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ZMYND11 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DNAH5 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NODAL | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | FGD1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | HHAT | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CHD7 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | COL11A1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | USH2A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | PRF1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MYO7A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RBFOX2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MTIF2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | PLCB4 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TTN | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ATRX | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | XYLT2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PTRH2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | STAG1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | FOXP1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CUL3 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CHEK2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SOS1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | JAK1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TMEM67 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GLI2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | GNAS | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ZEB2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | FBN1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CHD8 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RAI1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | EFTUD2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RPS6KA3 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TRIO | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GRHL3 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RBM10 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ANKRD11 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | EP300 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | KIF7 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TRPV4 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | STAT3 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SHOC2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DDX3X | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SMARCA4 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MN1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CHD7 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ASXL3 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PPP3CA | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SPRED1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RARB | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NR2F2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SATB2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TTN-AS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NR2F2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | WAC | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ECEL1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GJA8 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | LCA5 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | COL2A1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | BPTF | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ANOS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | KCNH2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CLPB | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | WDR45 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | HIVEP2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | COL27A1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | COL2A1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CHD4 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ACTB | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | FKBP10 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ACVR1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | BRAF | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ABCC9 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CDK13 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GJA1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ADNP | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | EFNB1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | POGZ | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NDUFAF2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | BCOR | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DNMT3A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MAN2B1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | VPS33B | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | MYO7A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | KMT2A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | THOC6 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ADNP | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TFAP2A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PKDCC | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | VPS33B | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CLTC | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CSF1R | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CHD4 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | ITPR1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RAF1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SOX2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | COL27A1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | VWF | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | AAAS | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ACTG2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MAGEL2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ECHS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ACTC1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SCN5A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RAB23 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ATP1A3 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | DVL1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CASK | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PIK3CA | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SMAD2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ZSWIM6 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PHF6 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GLI2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PHF8 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TFAP2A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | MAN2B1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TRMU | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TUBA1A | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GMPPB | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TUBA1A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | IQCE | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | WDR26 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ALX4 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ZNF335 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | PKD2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NOTCH1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TUBB | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | MED13L | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | HDAC8 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | COL1A2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PIGQ | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ARID1B | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NMNAT2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | NEB | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | THRA | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TGDS | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | AMER1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ZC4H2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SOX2-OT | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | KANSL1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PUF60 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PDHA1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SOS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SLC16A2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CANT1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | RAF1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RAB3GAP2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | GPD1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | GAA | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | KAT6B | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ASXL1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SON | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PACS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PIGQ | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | VAX2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | IRF2BPL | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | DOCK1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SYNGAP1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | TUBB3 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CPLANE1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | HNRNPK | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | VRK1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NDUFB3 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ASXL1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | GUCY2D | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SKI | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PPM1D | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | LRP5 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | MORC2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | PTPN11 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | OTX2 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | SF3B4 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | AUTS2 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | CREBBP | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | CDH23 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | BBS10 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NEB | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | PRPS1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | FOXG1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | NTRK1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | SMARCE1 | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | MEF2C | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | HNRNPR | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | TBCE | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | RIT1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | DIPK1A | group | C0000772 | GeneticVariation | 0.1 | disgenet |
| Abnormalities, Multiple | NIPBL | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ATP6V1B1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ACTG1 | group | C0000772 | CausalMutation | 0.1 | disgenet |
| Abnormalities, Multiple | ADAMTSL1 | NA | C0000772 | NA | NA | orphanet |
| Abnormalities, Multiple | PIGA | NA | C0000772 | NA | NA | orphanet |
| Abnormalities, Multiple | PIGN | NA | C0000772 | NA | NA | orphanet |
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