Back to discover
Disease

Cardiofaciocutaneous syndrome

Also known as CFC, CFC syndrome, cardio-facial-cutaneous syndrome, cardiofaciocutaneous (CFC) syndrome+2 more

CFC, CFC syndrome, cardio-facial-cutaneous syndrome, cardiofaciocutaneous (CFC) syndrome, cardio-facio-cutaneous syndrome, congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure.

12
Associated genes
7
Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

No activity recorded in this window. Try a wider timeframe.

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

BRAF0.88MAP2K20.86MAP2K10.83KRAS0.82KSR10.38MAPK30.37APBB1IP0.37ARRB10.37ARRB20.37CNKSR10.37CSK0.37IQGAP10.37

Disease biology

7 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Serine/threonine-protein kinase B-rafvia BRAF0.88Dual specificity mitogen-activated protein kinase kinase 2via MAP2K20.86Dual specificity mitogen-activated protein kinase kinase 1via MAP2K10.83GTPase KRasvia KRAS0.82Beta-arrestin-1via ARRB10.37Beta-arrestin-2via ARRB20.37Tyrosine-protein kinase CSKvia CSK0.37

Reference

Authoritative identity, definition & identifiers.

Synonyms

CFC, CFC syndrome, cardio-facial-cutaneous syndrome, cardiofaciocutaneous (CFC) syndrome, cardio-facio-cutaneous syndrome, congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.