Cardio-facio-cutaneous syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (Human Disease Ontology, DOID_0060233)
External Link http://www.omim.org/entry/115150
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
BRAF B-Raf proto-oncogene, serine/threonine kinase