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Meier-Gorlin syndrome 1
Summary
- Definition
- A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.
- Super Class
- Meier-Gorlin syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080512
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 2194 | FASN | fatty acid synthase | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 4069 | LYZ | lysozyme | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 64581 | CLEC7A | C-type lectin domain containing 7A |
Related Glycoprotein
