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
CRB1 Gene
crumbs 1, cell polarity complex component
  • 434
  • 24 Dec 2020
Topic Review
ABCA1 Gene
ATP binding cassette subfamily A member 1
  • 427
  • 24 Dec 2020
Topic Review
Permanent Neonatal Diabetes Mellitus
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan.
  • 316
  • 24 Dec 2020
Topic Review
Deafness-dystonia-optic Neuronopathy Syndrome
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
  • 431
  • 24 Dec 2020
Topic Review
CPT1A Gene
carnitine palmitoyltransferase 1A
  • 464
  • 24 Dec 2020
Topic Review
SF3B4 Gene
splicing factor 3b subunit 4
  • 418
  • 24 Dec 2020
Topic Review
EDN3 Gene
Endothelin 3: The EDN3 gene provides instructions for making a protein called endothelin 3. 
  • 457
  • 24 Dec 2020
Topic Review
Zellweger Spectrum Disorder
Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body.
  • 484
  • 24 Dec 2020
Topic Review
TERC Gene
Telomerase RNA component: The TERC gene provides instructions for making one component of an enzyme called telomerase. 
  • 518
  • 24 Dec 2020
Topic Review
Deafness and Myopia Syndrome
Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision.
  • 448
  • 24 Dec 2020
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