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
ABCA4 Gene
ATP binding cassette subfamily A member 4
  • 495
  • 24 Dec 2020
Topic Review
SAVI
STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs.
  • 763
  • 24 Dec 2020
Topic Review
Peroxisomal Acyl-CoA Oxidase Deficiency
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.
  • 412
  • 24 Dec 2020
Topic Review
CREBBP Gene
CREB binding protein
  • 340
  • 24 Dec 2020
Topic Review
Dementia with Lewy Bodies
Dementia with Lewy bodies is a nervous system disorder characterized by a decline in intellectual function (dementia), a group of movement problems known as parkinsonism, visual hallucinations, sudden changes (fluctuations) in behavior and intellectual ability, and acting out dreams while asleep (REM sleep behavior disorder). This condition typically affects older adults, most often developing between ages 50 and 85. The life expectancy of individuals with dementia with Lewy bodies varies; people typically survive about 5 to 7 years after they are diagnosed.
  • 321
  • 24 Dec 2020
Topic Review
TERT Gene
Telomerase reverse transcriptase: The TERT gene provides instructions for making one component of an enzyme called telomerase.
  • 367
  • 24 Dec 2020
Topic Review
STXBP1 Encephalopathy
STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy).
  • 382
  • 24 Dec 2020
Topic Review
SFTPC Gene
surfactant protein C
  • 321
  • 24 Dec 2020
Topic Review
ABCA3 Gene
ATP binding cassette subfamily A member 3
  • 421
  • 24 Dec 2020
Topic Review
EDNRB Gene
Endothelin receptor type B: The EDNRB gene provides instructions for making a protein called endothelin receptor type B. 
  • 445
  • 24 Dec 2020
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