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
Alzheimer Disease
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.
  • 664
  • 24 Dec 2020
Topic Review
RGS9 Gene
regulator of G protein signaling 9
  • 400
  • 24 Dec 2020
Topic Review
SYNGAP1 Gene
Synaptic Ras GTPase activating protein 1: The SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. 
  • 429
  • 24 Dec 2020
Topic Review
APC Gene
APC, WNT signaling pathway regulator
  • 745
  • 24 Dec 2020
Topic Review
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.
  • 349
  • 24 Dec 2020
Topic Review
Pyridoxal 5'-Phosphate-Dependent Epilepsy
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions.
  • 477
  • 24 Dec 2020
Topic Review
RFXAP Gene
regulatory factor X associated protein
  • 300
  • 24 Dec 2020
Topic Review
SYNE1 Gene
Spectrin repeat containing nuclear envelope protein 1: The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain.
  • 434
  • 24 Dec 2020
Topic Review
ANTXR2 Gene
ANTXR cell adhesion molecule 2
  • 350
  • 24 Dec 2020
Topic Review
RFXANK Gene
regulatory factor X associated ankyrin containing protein
  • 327
  • 24 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>