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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Topic Review
PAFAH1B1 Gene
platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • 486
  • 25 Dec 2020
Topic Review
TIMM8A Gene
Translocase of inner mitochondrial membrane 8A: The TIMM8A gene provides instructions for making a protein that is found inside mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.
  • 332
  • 25 Dec 2020
Topic Review
Fatty Acid Hydroxylase-associated Neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.
  • 419
  • 25 Dec 2020
Topic Review
PADI3 Gene
peptidyl arginine deiminase 3
  • 449
  • 25 Dec 2020
Topic Review
THPO Gene
Thrombopoietin: The THPO gene provides instructions for making a protein called thrombopoietin that promotes the growth and division (proliferation) of cells. 
  • 444
  • 25 Dec 2020
Topic Review
Farsightedness
Farsightedness, also known as hyperopia, is an eye condition that causes blurry near vision. People who are farsighted have more trouble seeing things that are close up (such as when reading or using a computer) than things that are far away (such as when driving).
  • 602
  • 25 Dec 2020
Topic Review
THAP1 Gene
THAP domain containing 1: The THAP1 gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes.
  • 442
  • 25 Dec 2020
Topic Review
TH Gene
Tyrosine hydroxylase (TH): The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which is important for normal functioning of the nervous system. 
  • 552
  • 25 Dec 2020
Topic Review
TGM5 Gene
Transglutaminase 5: The TGM5 gene provides instructions for making an enzyme called transglutaminase 5. 
  • 483
  • 25 Dec 2020
Topic Review
Farber Lipogranulomatosis
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
  • 441
  • 25 Dec 2020
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