Drachtman weinblatt sitarz syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital neurologic anomalies | C0497552 | ACTB | 22366783 |
| ACTG1 | 22366783 | ||
| ADH1B | |||
| ADH1C | |||
| COL1A1 | |||
| COL1A2 | |||
| FGD1 | 11093277 | ||
| GABRA2 | |||
| GALC | 30209698 | ||
| GJB2 | |||
| HBB | |||
| HOXA1 | 10529420 | ||
| HOXB1 | 10529420 | ||
| HTR2A | |||
| IL10 | |||
| CIITA | |||
| NFKBIL1 | |||
| PAX3 | 7556916 | ||
| PAX6 | 19329571 | ||
| PDGFRA | |||
| PRKCSH | |||
| PROC | |||
| SCN9A | |||
| SLC3A1 | |||
| SLC22A4 | |||
| TRPS1 | |||
| TP63 | |||
| SLC7A9 | |||
| PADI4 | |||
| ABCA12 | |||
| PTPN22 | |||
| CRBN | 27751757 | ||
| CD244 | |||
| L2HGDH | 15385440 | ||
| CEP290 | |||
| PGAP3 | 30217754 | ||
| SPRED1 | 17704776 |