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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Topic Review
HDAC4 Gene
Histone deacetylase 4
  • 492
  • 22 Dec 2020
Topic Review
ST3GAL5 Gene
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
  • 370
  • 22 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to involuntary back-and-forth eye movements (nystagmus) and a decreased ability to make rapid eye movements (saccadic slowing).  
  • 356
  • 23 Dec 2020
Topic Review
HCFC1 Gene
Host cell factor C1
  • 378
  • 22 Dec 2020
Topic Review
SRY Gene
SRY: Sex determining region Y. The SRY gene provides instructions for making a protein called the sex-determining region Y protein.
  • 3.7K
  • 22 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 1
Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle weakness leads to rapid, involuntary eye movements (nystagmus). Individuals with SCA1 may have difficulty processing, learning, and remembering information (cognitive impairment).
  • 482
  • 23 Dec 2020
Topic Review
Megalencephaly-Capillary Malformation Syndrome
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 550
  • 23 Dec 2020
Topic Review
HBB Gene
Hemoglobin subunit beta
  • 1.4K
  • 22 Dec 2020
Topic Review
TSEN2 Gene
tRNA splicing endonuclease subunit 2
  • 510
  • 22 Dec 2020
Topic Review
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive condition that affects brain development and function.
  • 371
  • 23 Dec 2020
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