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lissencephaly
Summary
- Definition
- A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
- Super Class
- congenital nervous system abnormality
External Links
- Disease Ontology
- DOID:0050453
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1020 | CDK5 | cyclin dependent kinase 5 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1778 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | |
| 4842 | NOS1 | nitric oxide synthase 1 | |
| 4843 | NOS2 | nitric oxide synthase 2 | |
| 4846 | NOS3 | nitric oxide synthase 3 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 7277 | TUBA4A | tubulin alpha 4a | |
| 7846 | TUBA1A | tubulin alpha 1a | |
| 8941 | CDK5R2 | cyclin dependent kinase 5 regulatory subunit 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24598 | Nos1 | nitric oxide synthase 1 | |
| 24600 | Nos3 | nitric oxide synthase 3 | |
| 29489 | Dync1h1 | dynein cytoplasmic 1 heavy chain 1 | |
| 84430 | Pomt1 | protein-O-mannosyltransferase 1 | |
| 140908 | Cdk5 | cyclin-dependent kinase 5 | |
| 362567 | Pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 688673 | Pomt2 | protein-O-mannosyltransferase 2 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 414570 | pomgnt1.L | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog | Xenopus laevis (African clawed frog) | |
| 448433 | pomt1 | protein-O-mannosyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 495292 | pomgnt1.S | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog | Xenopus laevis (African clawed frog) | |
| 100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) | |
| 100490100 | pomt2 | protein-O-mannosyltransferase 2 | Xenopus tropicalis (tropical clawed frog) | |
| 108698684 | pomt2.L | protein-O-mannosyltransferase 2 L homeolog | Xenopus laevis (African clawed frog) | |
| 108699937 | pomt1.S | protein-O-mannosyltransferase 1 S homeolog | Xenopus laevis (African clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 851210 | PMT2 | dolichyl-phosphate-mannose-protein mannosyltransferase PMT2 | |
| 853113 | PMT6 | dolichyl-phosphate-mannose-protein mannosyltransferase PMT6 | |
| 853608 | PMT4 | dolichyl-phosphate-mannose-protein mannosyltransferase | |
| 854499 | PMT3 | dolichyl-phosphate-mannose-protein mannosyltransferase PMT3 |
