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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Congenital Myasthenic Syndrome
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.
  • 358
  • 24 Dec 2020
Topic Review
Rhabdoid Tumor Predisposition Syndrome
Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a high risk of developing cancerous (malignant) growths called rhabdoid tumors.
  • 369
  • 24 Dec 2020
Topic Review
Beta-Ketothiolase Deficiency
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.
  • 361
  • 24 Dec 2020
Topic Review
BDNF Gene
brain derived neurotrophic factor
  • 430
  • 24 Dec 2020
Topic Review
Beta Thalassemia
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
  • 406
  • 24 Dec 2020
Topic Review
DSG4 Gene
Desmoglein 4: The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). 
  • 361
  • 24 Dec 2020
Topic Review
BCS1L Gene
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • 355
  • 24 Dec 2020
Topic Review
Chromosome 3
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 3, one copy inherited from each parent, form one of the pairs.
  • 513
  • 24 Dec 2020
Topic Review
Congenital Mirror Movement Disorder
Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side.
  • 504
  • 24 Dec 2020
Topic Review
BCR Gene
BCR, RhoGEF and GTPase activating protein
  • 600
  • 24 Dec 2020
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