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
EVC Gene
EvC ciliary complex subunit 1
  • 376
  • 24 Dec 2020
Topic Review
SMARCA2 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
  • 351
  • 24 Dec 2020
Topic Review
Genetics and Human Traits
Each person's fingerprints are unique, which is why they have long been used as a way to identify individuals. Surprisingly little is known about the factors that influence a person's fingerprint patterns. Like many other complex traits, studies suggest that both genetic and environmental factors play a role.
  • 1.3K
  • 24 Dec 2020
Topic Review
Dupuytren Contracture
Dupuytren contracture is characterized by a deformity of the hand in which the joints of one or more fingers cannot be fully straightened (extended); their mobility is limited to a range of bent (flexed) positions. The condition is a disorder of connective tissue, which supports the body's muscles, joints, organs, and skin and provides strength and flexibility to structures throughout the body. In particular, Dupuytren contracture results from shortening and thickening of connective tissues in the hand, including fat and bands of fibrous tissue called fascia; the skin is also involved.
  • 345
  • 24 Dec 2020
Topic Review
SMAD4 Gene
SMAD family member 4
  • 336
  • 24 Dec 2020
Topic Review
Primary Coenzyme Q10 Deficiency
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
  • 679
  • 24 Dec 2020
Topic Review
ETV6 Gene
ETS variant 6
  • 327
  • 24 Dec 2020
Topic Review
Duchenne and Becker Muscular Dystrophy
Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.
  • 396
  • 24 Dec 2020
Topic Review
SLURP1 Gene
secreted LY6/PLAUR domain containing 1
  • 396
  • 24 Dec 2020
Topic Review
Dubin-Johnson Syndrome
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. 
  • 399
  • 24 Dec 2020
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