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
ABCC9 Gene
ATP binding cassette subfamily C member 9
  • 412
  • 24 Dec 2020
Topic Review
CTNNB1 Gene
catenin beta 1
  • 563
  • 24 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 448
  • 24 Dec 2020
Topic Review
SHANK3 Gene
SH3 and multiple ankyrin repeat domains 3
  • 349
  • 24 Dec 2020
Topic Review
ABCC6 Gene
ATP binding cassette subfamily C member 6
  • 414
  • 24 Dec 2020
Topic Review
Perry Syndrome
Perry syndrome is a progressive brain disease that is characterized by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.
  • 463
  • 24 Dec 2020
Topic Review
SETBP1 Disorder
SETBP1 disorder is a condition that involves speech and language problems, intellectual disability, and distinctive facial features.
  • 412
  • 24 Dec 2020
Topic Review
ABCC2 Gene
ATP binding cassette subfamily C member 2
  • 544
  • 24 Dec 2020
Topic Review
SLC35A2-Congenital Disorder of Glycosylation
SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals.
  • 465
  • 24 Dec 2020
Topic Review
Dentatorubral-pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
  • 262
  • 24 Dec 2020
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