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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MYH3 Gene
myosin heavy chain 3
  • 445
  • 23 Dec 2020
Topic Review
MYH11 Gene
myosin heavy chain 11
  • 336
  • 23 Dec 2020
Topic Review
Glanzmann Thrombasthenia
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth.
  • 348
  • 23 Dec 2020
Topic Review
Gitelman Syndrome
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
  • 516
  • 23 Dec 2020
Topic Review
Gillespie Syndrome
Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
  • 504
  • 23 Dec 2020
Topic Review
MYD88 Gene
MYD88, innate immune signal transduction adaptor
  • 619
  • 23 Dec 2020
Topic Review
Gilbert Syndrome
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
  • 473
  • 23 Dec 2020
Topic Review
MYCN Gene
MYCN proto-oncogene, bHLH transcription factor
  • 306
  • 23 Dec 2020
Topic Review
MYBPC3 Gene
myosin binding protein C, cardiac
  • 388
  • 23 Dec 2020
Topic Review
Giant Congenital Melanocytic Nevus
Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth.
  • 458
  • 23 Dec 2020
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