cardiofaciocutaneous syndrome Gene Set

Dataset OMIM Gene-Disease 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
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Genes

1 genes associated with the cardiofaciocutaneous syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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