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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Entries
Topic Review
RUNX2
runt related transcription factor 2
  • 429
  • 24 Dec 2020
Topic Review
ATL1 Gene
atlastin GTPase 1. The ATL1 gene provides instructions for producing a protein called atlastin-1. 
  • 372
  • 24 Dec 2020
Topic Review
Aromatic l-amino Acid Decarboxylase Deficiency
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.
  • 522
  • 24 Dec 2020
Topic Review
Opitz G/BBB Syndrome
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
  • 332
  • 24 Dec 2020
Topic Review
ASXL1 Gene
ASXL transcriptional regulator 1
  • 370
  • 24 Dec 2020
Topic Review
RUNX1 Gene
runt related transcription factor 1
  • 365
  • 24 Dec 2020
Topic Review
Aromatase Deficiency
Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.
  • 421
  • 24 Dec 2020
Topic Review
ASPM Gene
abnormal spindle microtubule assembly
  • 409
  • 24 Dec 2020
Topic Review
Opioid Addiction
Opioid addiction is a long-lasting (chronic) disease that can cause major health, social, and economic problems. Opioids are a class of drugs that act in the nervous system to produce feelings of pleasure and pain relief. Some opioids are legally prescribed by healthcare providers to manage severe and chronic pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, such as heroin, are illegal drugs of abuse.
  • 418
  • 24 Dec 2020
Topic Review
Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
  • 431
  • 24 Dec 2020
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