Phakomatosis pigmentovascularis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Port-Wine Stain | C0235752 | CDKN1C | |
| CYP1B1 | |||
| DVL1 | |||
| DVL3 | |||
| ELN | |||
| FGFR1 | |||
| GNAQ | 23656586 | ||
| GTF2I | |||
| IGF2 | |||
| KCNQ1 | |||
| KRAS | |||
| LIMK1 | |||
| LTBP2 | |||
| MIPEP | |||
| MYOC | |||
| ROR2 | |||
| PIK3CA | |||
| RAD51 | |||
| RAF1 | |||
| RASA1 | 14639529 | ||
| RFC2 | |||
| TEK | |||
| TFAP2A | |||
| TSC1 | |||
| TSC2 | |||
| CLIP2 | |||
| WNT5A | |||
| BAZ1B | |||
| GTF2IRD1 | |||
| KCNQ1OT1 | |||
| RHOBTB2 | |||
| TBL2 | |||
| ASXL2 | |||
| KLHL7 | |||
| NXN | |||
| NEK9 | |||
| ASXL1 | |||
| H19 | |||
| H19-ICR | |||
| Port-wine stain with oculocutaneous melanosis | C1274879 | GNA11 | 26778290 |
| GNAQ | 26778290 |