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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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 51196 | PLCE1 | phospholipase C epsilon 1 | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9NRA2 | Sialin | |
| Q9P212 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
