Arnold-chiari malformation
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Arnold Chiari Malformation | C0003803 | CHD4 | |
| DNMT3A | |||
| ELN | |||
| ERF | 23354439 | ||
| FBN1 | |||
| FGFR1 | |||
| FGFR3 | |||
| FGFR2 | |||
| GNAQ | |||
| GTF2I | |||
| LIMK1 | |||
| MECP2 | |||
| NOTCH2 | |||
| NOTCH3 | |||
| PIK3CA | |||
| POR | |||
| PTCH1 | |||
| PTEN | |||
| RFC2 | |||
| SALL1 | |||
| SC5D | |||
| SKI | |||
| SON | |||
| CLIP2 | |||
| ZIC1 | |||
| HMGA2 | |||
| BAZ1B | |||
| GTF2IRD1 | |||
| TMEM94 | |||
| POLR3A | |||
| SIK3 | |||
| LEMD3 | |||
| TBL2 | |||
| SETD2 | |||
| DACT1 | |||
| MKS1 | |||
| RFWD3 | |||
| FANCI | |||
| KMT2C | |||
| PORCN | |||
| TBL1XR1 | |||
| FUZ | 21840926 | ||
| VANGL1 | |||
| Arnold-Chiari Malformation, Type I | C0750929 | DNMT3A | |
| ERF | 23354439 | ||
| FGFR2 | |||
| HRAS | |||
| MIPEP | |||
| NFIA | |||
| NONO | |||
| NOTCH3 | |||
| PAX2 | |||
| PPP1CB | |||
| SKI | |||
| CDC45 | |||
| POLR3A | |||
| DKK1 | 28513615 | ||
| SETBP1 | |||
| Arnold-Chiari Malformation, Type III | C0750931 | ERF | 23354439 |
| Arnold-Chiari Malformation, Type IV | C0750932 | ERF | 23354439 |