Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
cardiofaciocutaneous syndrome 2
Summary
- Synonym
-
- CFC2
- Definition
- A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.
- Super Class
- autosomal dominant disease cardiofaciocutaneous syndrome
External Links
- Disease Ontology
- DOID:0111461
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01116 | GTPase KRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008872 | Feeding difficulties in infancy |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0008070 | Sparse hair |
| HP:0010669 | Hypoplasia of the zygomatic bone |
