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
ASPA Gene
aspartoacylase
  • 723
  • 24 Dec 2020
Topic Review
RRM2B Gene
ribonucleotide reductase regulatory TP53 inducible subunit M2B
  • 324
  • 24 Dec 2020
Topic Review
Chylomicron retention disease
Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food.
  • 371
  • 24 Dec 2020
Topic Review
TCIRG1 Gene
TCIRG1 Gene: T cell immune regulator 1, ATPase H+ transporting V0 subunit a3. The TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase).
  • 419
  • 24 Dec 2020
Topic Review
Ophthalmo-Acromelic Syndrome
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma).
  • 403
  • 24 Dec 2020
Topic Review
ASAH1 Gene
N-acylsphingosine amidohydrolase 1
  • 396
  • 24 Dec 2020
Topic Review
Argininosuccinic Aciduria
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 373
  • 24 Dec 2020
Topic Review
Chronic Granulomatous Disease
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency.
  • 376
  • 24 Dec 2020
Topic Review
ARX Gene
aristaless related homeobox
  • 346
  • 24 Dec 2020
Topic Review
TCHH Gene
Trichohyalin: The TCHH gene provides instructions for making a protein called trichohyalin. This protein is primarily found in hair follicles, which are specialized structures in the skin where hair growth occurs.
  • 750
  • 24 Dec 2020
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