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
SOX10 Gene
SRY-box 10
  • 302
  • 24 Dec 2020
Topic Review
SOS1 Gene
SOS Ras/Rac guanine nucleotide exchange factor 1
  • 486
  • 24 Dec 2020
Topic Review
EWSR1 Gene
EWS RNA binding protein 1
  • 588
  • 24 Dec 2020
Topic Review
Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time.
  • 374
  • 24 Dec 2020
Topic Review
SNCA Gene
synuclein alpha
  • 549
  • 24 Dec 2020
Topic Review
Primary Sclerosing Cholangitis
Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.
  • 374
  • 24 Dec 2020
Topic Review
SMN2 Gene
survival of motor neuron 2, centromeric
  • 398
  • 24 Dec 2020
Topic Review
Primary Macronodular Adrenal Hyperplasia
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.
  • 435
  • 24 Dec 2020
Topic Review
Gene Therapy
Gene therapy is an experimental technique that uses genes to treat or prevent disease. 
  • 3.4K
  • 24 Dec 2020
Topic Review
SMN1 Gene
survival of motor neuron 1, telomeric
  • 330
  • 24 Dec 2020
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