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Results 91 - 100 of 1,504 for condition
  1. ATP2A2 gene 
    ... ATP2A2 gene have been found to cause Darier disease. This disorder is a skin condition characterized by wart-like blemishes on the body. ... font-size:9pt;}The variants that cause Darier disease prevent cells from producing enough SERCA2, or they ...
    https://medlineplus.gov/genetics/gene/atp2a2 - Genetics
  2. BRAF gene 
    ... the most common cause of cardiofaciocutaneous syndrome. This condition affects many parts of the body, particularly the ... features of cardiofaciocutaneous syndrome. More About This Health Condition At least one mutation in the BRAF gene ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  3. MAP2K1 gene 
    ... been identified in people with cardiofaciocutaneous syndrome. This condition affects many parts of the body, particularly the ... features of cardiofaciocutaneous syndrome. More About This Health Condition At least three mutations in the MAP2K1 gene ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  4. ERCC3 gene 
    ... to be a rare cause of trichothiodystrophy. This condition affects many parts of the body. The hallmark ... gene variant causes the photosensitive form of the condition, which is characterized by an extreme sensitivity to ...
    https://medlineplus.gov/genetics/gene/ercc3 - Genetics
  5. CACNA1A gene 
    ... people with episodic ataxia. More About This Health Condition Several variants in the CACNA1A gene have been ... with familial hemiplegic migraine type 1 (FHM1). This condition is characterized by migraines with a pattern of ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  6. NOG gene 
    ... gene have been identified in people with a condition called tarsal-carpal coalition syndrome. This condition is characterized by fusion of the individual bones ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  7. TRPV4 gene 
    ... MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition At least 30 mutations in the TRPV4 gene ... associated with metatropic dysplasia. More About This Health Condition Mutations in the TRPV4 gene cause a variety ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  8. VDR gene 
    ... prone to fracture. A common feature of this condition is abnormally curved (bowed) legs.The VDR gene mutations that cause this condition prevent the VDR protein from functioning properly. Some ...
    https://medlineplus.gov/genetics/gene/vdr - Genetics
  9. PTCH1 gene 
    ... known as nevoid basal cell carcinoma syndrome), a condition that affects many areas of the body and ... the other signs and symptoms related to this condition, including small depressions (pits) in the skin of ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  10. NLRP3 gene 
    ... blood cells to a site of injury or disease to fight foreign invaders and help repair damaged ... periodic syndromes (CAPS). CAPS are a group of conditions that have overlapping signs and symptoms. The conditions ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
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