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.

Expand All
Entries
Topic Review
STIM1 Gene
stromal interaction molecule 1: The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1 (STIM1). 
  • 491
  • 22 Dec 2020
Topic Review
STAT4 Gene
Signal transducer and activator of transcription 4: The STAT4 gene provides instructions for a protein that acts as a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of certain genes.
  • 427
  • 22 Dec 2020
Topic Review
PRKAG2 Gene
protein kinase AMP-activated non-catalytic subunit gamma 2
  • 319
  • 22 Dec 2020
Topic Review
STAT3 Gene
Signal transducer and activator of transcription 3: The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions for making proteins that are part of essential chemical signaling pathways within cells. 
  • 407
  • 22 Dec 2020
Topic Review
HLA-DQB1 Gene
Major histocompatibility complex, class II, DQ beta 1
  • 395
  • 22 Dec 2020
Topic Review
STAT1 Gene
Signal transducer and activator of transcription 1: The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida.
  • 413
  • 22 Dec 2020
Topic Review
Metachromatic Leukodystrophy
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
  • 341
  • 23 Dec 2020
Topic Review
HLA-DQA1 Gene
Major histocompatibility complex, class II, DQ alpha 1
  • 308
  • 22 Dec 2020
Topic Review
Spondylothoracic Dysostosis
Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs.
  • 667
  • 23 Dec 2020
Topic Review
TSEN54 Gene
tRNA splicing endonuclease subunit 54
  • 330
  • 22 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>