Lissencephaly
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Classical Lissencephaly | C0431375 | DCX | |
| MNT | 15028671 | ||
| PAFAH1B1 | 11502906, 10441340, 15007136, 11115846, 18285425, 26633545, 9063735, 19667223, 14581661, 11163258, 12885786, 25140959, 15173193 | ||
| Lissencephaly | C0266463 | ACTG1 | |
| STS | |||
| CDK5 | |||
| CTNNA2 | 30013181 | ||
| HIC1 | |||
| LAMB1 | |||
| NBN | |||
| PAFAH1B1 | |||
| PEX13 | |||
| YWHAE | |||
| TUBA1A | |||
| CRADD | |||
| MPDZ | |||
| TUBB3 | |||
| MACF1 | 16815997, 30471716 | ||
| PHGDH | |||
| PSAT1 | |||
| EXOSC3 | |||
| NDE1 | |||
| PEX26 | |||
| SLC25A19 | |||
| FTO | |||
| KIAA1109 | |||
| TUBA3E | |||
| TMTC3 | |||
| CTU2 | |||
| Lissencephaly 3 | C1969029 | TUBA1A | 18728072, 17584854, 26633545, 29706646, 18954413, 24860126, 25818041, 22264709, 18669490, 22948023, 20466733 |
| LISSENCEPHALY 4 | C3151461 | NDE1 | 21529751, 22526350, 21529752 |
| LISSENCEPHALY 5 | C3554657 | DLD | |
| LAMB1 | 23472759, 17525174, 25925986 | ||
| LISSENCEPHALY 8 | C4310646 | TMTC3 | 27773428 |
| Lissencephaly due to LIS1 mutation | 95232 | PAFAH1B1 | |
| Lissencephaly due to TUBA1A mutation | 171680 | TUBA1A | |
| Lissencephaly type 1 due to doublecortin gene mutation | 2148 | DCX | |
| Type III lissencephaly | C4021030 | CENPJ |