Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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TEK Gene
TEK receptor tyrosine kinase: The TEK gene (also called the TIE2 gene) provides instructions for making a protein called TEK receptor tyrosine kinase.
  • 461
  • 24 Dec 2020
Topic Review
Darier Disease
Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet.
  • 362
  • 24 Dec 2020
Topic Review
SETBP1 Gene
SET binding protein 1
  • 341
  • 24 Dec 2020
Topic Review
COQ2 Gene
coenzyme Q2, polyprenyltransferase
  • 331
  • 24 Dec 2020
Topic Review
EDARADD Gene
EDAR associated death domain: The EDARADD gene provides instructions for making a protein called the EDAR-associated death domain protein. 
  • 499
  • 24 Dec 2020
Topic Review
COMT Gene
catechol-O-methyltransferase
  • 521
  • 24 Dec 2020
Topic Review
Danon Disease
Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles, (myopathy); and intellectual disability. Males with Danon disease usually develop the condition earlier than females and are more severely affected. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Affected males, on average, live to age 19, while affected females live to an average age of 34.
  • 355
  • 24 Dec 2020
Topic Review
TECTA Gene
TECTA: Tectorin alpha. The TECTA gene provides instructions for making a protein called alpha-tectorin.
  • 377
  • 24 Dec 2020
Topic Review
SERPINI1 Gene
serpin family I member 1
  • 380
  • 24 Dec 2020
Topic Review
EDAR Gene
Ectodysplasin A receptor: The EDAR gene provides instructions for making a protein called the ectodysplasin A receptor. 
  • 661
  • 24 Dec 2020
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