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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
split hand-foot malformation 1
Summary
- Synonym
-
- SHFD1
- SHFM1
- Definition
- A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
- Super Class
- autosomal dominant disease split hand-foot malformation
External Links
- Disease Ontology
- DOID:0090021
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 7368 | UGT8 | UDP glycosyltransferase 8 | |
| 51266 | CLEC1B | C-type lectin domain family 1 member B | |
| 81890 | QTRT1 | queuine tRNA-ribosyltransferase catalytic subunit 1 |
Related Glycoprotein
