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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Entries
Topic Review
TBXAS1 Gene
Thromboxane A synthase 1: The TBXAS1 gene provides instructions for making an enzyme called thromboxane A synthase 1.
  • 343
  • 24 Dec 2020
Topic Review
Choroideremia
Choroideremia is a condition characterized by progressive vision loss that mainly affects males.
  • 335
  • 24 Dec 2020
Topic Review
Ankyrin-B syndrome
Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.
  • 563
  • 24 Dec 2020
Topic Review
TBX5 Gene
T-box 5: The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. 
  • 357
  • 24 Dec 2020
Topic Review
RPGR Gene
retinitis pigmentosa GTPase regulator
  • 296
  • 24 Dec 2020
Topic Review
AR Gene
androgen receptor
  • 508
  • 24 Dec 2020
Topic Review
Chorea-Acanthocytosis
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder.
  • 312
  • 24 Dec 2020
Topic Review
TBX1 Gene
T-box 1: The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. 
  • 441
  • 24 Dec 2020
Topic Review
Ankylosing Spondylitis
Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis.
  • 491
  • 24 Dec 2020
Topic Review
TBP Gene
TATA-box binding protein: The TBP gene provides instructions for making a protein called the TATA box binding protein. 
  • 674
  • 24 Dec 2020
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