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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cryptic, EGF-CFC family member 1
Summary
- Gene Symbol
-
- CFC1
- Aliases
-
- CRYPTIC
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Disease variant
- Disulfide bond
- EGF-like domain
- GPI-anchor
- Gastrulation
- Heterotaxy
- Reference proteome
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P0CG37 |
|
| A0A087WX98 |
|
| A0A087WWV2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| nodal signaling pathway |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| cell surface | ||
| cellular_component | ||
| plasma membrane | ||
| side of membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| nodal binding | ||
| activin receptor binding | ||
| molecular_function |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110110 | atrial heart septal defect 5 | |
| DOID:0110111 | atrial heart septal defect 6 | |
| DOID:0110112 | atrial heart septal defect 7 | |
| DOID:0110113 | atrial heart septal defect 8 | |
| DOID:0110114 | atrial heart septal defect 9 | |
| DOID:0111460 | cardiofaciocutaneous syndrome 1 | |
| DOID:10652 | Alzheimer's disease | |
| DOID:114 | heart disease | |
| DOID:11870 | Pick's disease | |
| DOID:12365 | malaria |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000252 | Microcephaly |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001651 | Dextrocardia |
| HP:0001669 | Transposition of the great arteries |
| HP:0001696 | Situs inversus totalis |
| HP:0001719 | Double outlet right ventricle |
| HP:0001746 | Asplenia |
| HP:0001748 | Polysplenia |
| HP:0002566 | Intestinal malrotation |
| Disease ID | Disease Name |
|---|---|
| OMIM:605376 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 459608 | PANTR28657 | ||
| 100436096 | PONAB24224 | ||
| 100756508 | CRIGR26369 | ||
| 12627 | MGI:109448 | MOUSE29129 | |
| 501121 | RGD:1562188 | RATNO43765 | |
| 103099228 | MONDO28918 | ||
| 100600217 | NOMLE19156 | ||
| 103746157 | NANGA23524 |
