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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WFS1 Gene
Wolframin ER transmembrane glycoprotein.
  • 379
  • 24 Dec 2020
Topic Review
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves.
  • 409
  • 24 Dec 2020
Topic Review
Pseudoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.
  • 346
  • 24 Dec 2020
Topic Review
STRC Gene
Stereocilin: The STRC gene provides instructions for making a protein called stereocilin. 
  • 488
  • 24 Dec 2020
Topic Review
WDR45 Gene
WD repeat domain 45.
  • 398
  • 24 Dec 2020
Topic Review
Cerebro-facio-thoracic Dysplasia
Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic).
  • 435
  • 24 Dec 2020
Topic Review
STK11 Gene
Serine/threonine kinase 11: The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11.
  • 362
  • 24 Dec 2020
Topic Review
Pseudohypoaldosteronism Type 2
Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.
  • 304
  • 24 Dec 2020
Topic Review
Nonsyndromic Hearing Loss
Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.
  • 314
  • 24 Dec 2020
Topic Review
Cerebral Folate Transport Deficiency
Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain.
  • 352
  • 24 Dec 2020
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