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
AMN Gene
amnion associated transmembrane protein
  • 388
  • 24 Dec 2020
Topic Review
Childhood Myocerebrohepatopathy Spectrum
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders.
  • 714
  • 24 Dec 2020
Topic Review
Chromosome 10
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs.
  • 415
  • 24 Dec 2020
Topic Review
AMER1 Gene
APC membrane recruitment protein 1
  • 486
  • 24 Dec 2020
Topic Review
Chromosome 1
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs.
  • 493
  • 24 Dec 2020
Topic Review
Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
  • 340
  • 24 Dec 2020
Topic Review
ZNF341 Gene
Zinc finger protein 341
  • 472
  • 24 Dec 2020
Topic Review
Aicardi Syndrome
Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).
  • 334
  • 24 Dec 2020
Topic Review
African Iron Overload
African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet.
  • 442
  • 24 Dec 2020
Topic Review
ZMYM2 Gene
Zinc finger MYM-type containing 2
  • 708
  • 24 Dec 2020
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