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
GALNT3 Gene
Polypeptide N-acetylgalactosaminyltransferase 3
  • 334
  • 25 Dec 2020
Topic Review
Familial Cold Autoinflammatory Syndrome
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.
  • 487
  • 25 Dec 2020
Topic Review
Short-Chain Acyl-CoA Dehydrogenase Deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting).
  • 382
  • 25 Dec 2020
Topic Review
Familial Candidiasis
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
  • 521
  • 25 Dec 2020
Topic Review
GALK1 Gene
Galactokinase 1
  • 407
  • 25 Dec 2020
Topic Review
GALE Gene
UDP-galactose-4-epimerase
  • 340
  • 25 Dec 2020
Topic Review
Familial Atrial Fibrillation
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm.
  • 382
  • 25 Dec 2020
Topic Review
GALC Gene
Galactosylceramidase: The GALC gene provides instructions for making an enzyme called galactosylceramidase. 
  • 415
  • 25 Dec 2020
Topic Review
Familial Adenomatous Polyposis
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.
  • 431
  • 25 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 437
  • 25 Dec 2020
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