BRAF

Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway. {ECO:0000269|PubMed:21441910}.;

• Cardiofaciocutaneous syndrome 1 (CFC1)
  

  A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.
  The disease is caused by mutations affecting the gene represented in this entry. OMIM

  MedGen: C0279680 C0950123 CN029449 C1275081 C0028326 C1857486 C4551602 C3150971 OrphaNet: 1340 648
  
  
• Familial non-Hodgkin lymphoma (NHL)
  

  Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss.
  The gene represented in this entry is involved in disease pathogenesis. OMIM

  MedGen: C0206686 C0553723 C0279680 OrphaNet: 547 29073
  
  
• Lung cancer (LNCR)
  

  A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
  The gene represented in this entry is involved in disease pathogenesis. OMIM

  MedGen: C0677865 C0279680 C0027651 C0028326 C0007131 C0175704 C0684249 OrphaNet: 1340 648 98733 67037 500
  
  
• Colorectal cancer (CRC)
  

  A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
  The disease may be caused by mutations affecting the gene represented in this entry. OMIM

  MedGen: C0025202 C4225426 C0023434 OrphaNet: 213569 360 98733
  
  
• Noonan syndrome 7 (NS7)
  

  A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.
  The disease is caused by mutations affecting the gene represented in this entry. OMIM

  MedGen: C0025202 C0684249 C3150970 C1275081 OrphaNet: 1340 98733
  
  
• LEOPARD syndrome 3 (LPRD3)
  

  A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.
  The disease is caused by mutations affecting the gene represented in this entry. OMIM

  MedGen: C1275081 C3150970 OrphaNet: 98733