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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Topic Review
TGM3 Gene
Transglutaminase 3: The TGM3 gene provides instructions for making an enzyme called transglutaminase 3.
  • 491
  • 25 Dec 2020
Topic Review
TGM1 Gene
Transglutaminase 1: The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. 
  • 431
  • 25 Dec 2020
Topic Review
TGIF1 Gene
TGFB induced factor homeobox 1: The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain).
  • 447
  • 25 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 440
  • 25 Dec 2020
Topic Review
TGFBR2 Gene
Transforming growth factor beta receptor 2: The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. 
  • 377
  • 25 Dec 2020
Topic Review
Familial Restrictive Cardiomyopathy
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).
  • 397
  • 25 Dec 2020
Topic Review
Familial Porencephaly
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders.
  • 505
  • 25 Dec 2020
Topic Review
EIF2B4 Gene
Eukaryotic translation initiation factor 2B subunit delta
  • 360
  • 25 Dec 2020
Topic Review
Familial Pityriasis Rubra Pilaris
Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
  • 388
  • 25 Dec 2020
Topic Review
TGFBR1 Gene
transforming growth factor beta receptor 1
  • 413
  • 25 Dec 2020
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