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
MVK Gene
mevalonate kinase
  • 318
  • 23 Dec 2020
Topic Review
Thiopurine S-methyltransferase Deficiency
Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.
  • 832
  • 23 Dec 2020
Topic Review
Giant Axonal Neuropathy
Giant axonal neuropathy is an inherited condition characterized by abnormally large and dysfunctional axons called giant axons.
  • 436
  • 23 Dec 2020
Topic Review
MUC1 Gene
mucin 1, cell surface associated
  • 336
  • 23 Dec 2020
Topic Review
Ghosal Hematodiaphyseal Dysplasia
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia). Signs and symptoms of the condition become apparent in early childhood.
  • 360
  • 23 Dec 2020
Topic Review
MTR Gene
5-methyltetrahydrofolate-homocysteine methyltransferase
  • 786
  • 23 Dec 2020
Topic Review
Gestational Diabetes
Gestational diabetes is a disorder characterized by abnormally high blood sugar levels during pregnancy.
  • 524
  • 12 Jan 2021
Topic Review
MTOR Gene
mechanistic target of rapamycin kinase
  • 370
  • 23 Dec 2020
Topic Review
Thiamine-responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing loss, diabetes, and a blood disorder called megaloblastic anemia.  
  • 428
  • 23 Dec 2020
Topic Review
Genitopatellar Syndrome
Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.
  • 392
  • 23 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>