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
MT-ND4 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
  • 368
  • 23 Dec 2020
Topic Review
GM3 Synthase Deficiency
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development.
  • 381
  • 23 Dec 2020
Topic Review
MT-ND1 Gene
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
  • 436
  • 23 Dec 2020
Topic Review
Systemic Lupus Erythematosus
Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.  
  • 611
  • 23 Dec 2020
Topic Review
MT-CYB Gene
mitochondrially encoded cytochrome b
  • 475
  • 23 Dec 2020
Topic Review
Swyer Syndrome
Swyer syndrome is a condition that affects sexual development. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.  
  • 2.1K
  • 23 Dec 2020
Topic Review
MT-ATP6 Gene
mitochondrially encoded ATP synthase membrane subunit 6
  • 481
  • 23 Dec 2020
Topic Review
MSX2 Gene
msh homeobox 2
  • 301
  • 23 Dec 2020
Topic Review
GM2-Gangliosidosis, AB Variant
GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 402
  • 23 Dec 2020
Topic Review
MSX1 Gene
msh homeobox 1
  • 301
  • 23 Dec 2020
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  • 215

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