cryptic, EGF-CFC family member 1

Summary
Gene Symbol
  • CFC1
Aliases
  • CRYPTIC
Organism
Homo sapiens (human)
External Links
NCBI Gene
55997
HGNC
18292
KEGG Gene ID
hsa:55997
PubChem
55997
Alliance of Genome Resources
Annotation
Keyword
  • Cell membrane
  • Disease variant
  • Disulfide bond
  • EGF-like domain
  • GPI-anchor
  • Gastrulation
  • Heterotaxy
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying all 3 entries
UniProt Protein Name
P0CG37
  • Cryptic family protein 1
A0A087WX98
A0A087WWV2
Gene Ontology (GO)
KEGG BRITE Database
Orthology
K25454
Name
cryptic protein
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 69 in total
DO ID Disease Name Source
DOID:1287 cardiovascular system disease
DOID:13515 tuberous sclerosis
DOID:13608 biliary atresia
DOID:13620 patent foramen ovale
DOID:14323 Marfan syndrome
DOID:1443 cerebral degeneration
DOID:14525 Reye syndrome
DOID:162 cancer
DOID:1682 congenital heart disease
DOID:1882 atrial heart septal defect
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
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
Displaying 1 entry
Disease ID Disease Name
OMIM:605376
  • heterotaxy, visceral, 2, autosomal

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024