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MIRAGE
neural tube defect
Summary
- Definition
- A physical disorder characterized by incomplete closure of the neural tube.
- Super Class
- physical disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 875 | CBS | cystathionine beta-synthase | |
| 4522 | MTHFD1 | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | |
| 6862 | TBXT | T-box transcription factor T | |
| 25902 | MTHFD1L | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like | |
| 80199 | FUZ | fuzzy planar cell polarity protein |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15178 | T-box transcription factor T | |
| P11586 | C-1-tetrahydrofolate synthase, cytoplasmic | |
| P35520 | Cystathionine beta-synthase | |
| Q6UB35 | Monofunctional C1-tetrahydrofolate synthase, mitochondrial | |
| Q9BT04 | Protein fuzzy homolog |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O88572 | Low-density lipoprotein receptor-related protein 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0010301 | Spinal dysraphism |
