Congenital microcephaly
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital microcephaly | C2677180 | ABCD1 | |
| CTNNB1 | |||
| DARS1 | |||
| DHCR7 | |||
| FOXG1 | |||
| GRIN2A | |||
| KCNQ1 | |||
| MTM1 | |||
| PIGH | |||
| RBBP8 | |||
| TAF13 | |||
| TBCD | |||
| TRIO | |||
| EOMES | |||
| CASK | |||
| FIG4 | |||
| ZMPSTE24 | |||
| TUBB3 | |||
| POMT1 | |||
| RNF13 | 30595371 | ||
| TXN2 | |||
| RTTN | |||
| PHGDH | |||
| DISC1 | |||
| PSAT1 | |||
| SMARCAL1 | |||
| NDE1 | |||
| FRMD4A | |||
| VAC14 | |||
| CENPJ | |||
| ALG1 | |||
| CLPB | |||
| ASPM | |||
| TSEN54 | |||
| Severe Congenital Microcephaly | C3853041 | BUB1B | 15475955 |
| DYNC1H1 | 23603762 | ||
| DNMT3A | 30478443 | ||
| ERCC6 | 10739753, 18628313 | ||
| FOXG1 | 18627055 | ||
| KIF2A | 23603762 | ||
| KIF5C | 23603762 | ||
| ORC1 | 21358633 | ||
| SLC2A1 | 10980529, 9462754 | ||
| TBCD | 27666374, 27666370 | ||
| TCF4 | 18728071 | ||
| TUBG1 | 23603762 | ||
| H4C3 | 28920961 | ||
| CASK | 19165920 | ||
| DNM1L | 17460227 | ||
| PQBP1 | 15024694, 14634649, 16740914 | ||
| TRAIP | 26595769 | ||
| STAMBP | 23542699 | ||
| PLK4 | 25344692 | ||
| PNKP | 20118933 | ||
| SIN3A | 27399968 | ||
| KIFBP | 15883926 | ||
| DONSON | 28191891 | ||
| ZC4H2 | 26056227 | ||
| TSEN34 | 18711368 | ||
| CEP63 | 21983783 | ||
| TSEN2 | 18711368 | ||
| MFSD2A | 26005865, 26005868 | ||
| TSEN54 | 18711368 | ||
| WDR62 | 20890279, 20890278 | ||
| MIR17HG | 21892160 |