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
ZAP70 Gene
Zeta chain of T cell receptor associated protein kinase 70
  • 334
  • 24 Dec 2020
Topic Review
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
  • 499
  • 24 Dec 2020
Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 542
  • 24 Dec 2020
Topic Review
ALK Gene
ALK receptor tyrosine kinase. The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). 
  • 469
  • 24 Dec 2020
Topic Review
YY1AP1 Gene
YY1 associated protein 1: the YY1AP1 gene provides instructions for making part of a group of associated proteins known as the INO80 chromatin remodeling complex. 
  • 427
  • 24 Dec 2020
Topic Review
Childhood Absence Epilepsy
Childhood absence epilepsy is a condition characterized by recurrent seizures (epilepsy).
  • 357
  • 24 Dec 2020
Topic Review
Ochoa Syndrome
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
  • 319
  • 24 Dec 2020
Topic Review
YWHAE Gene
Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
  • 603
  • 24 Dec 2020
Topic Review
XPC Gene
XPC complex subunit, DNA damage recognition and repair factor: the XPC gene provides instructions for making a protein that is involved in repairing damaged DNA. 
  • 520
  • 24 Dec 2020
Topic Review
Norrie Disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.
  • 400
  • 24 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>