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
EIF2B5 Gene
Eukaryotic translation initiation factor 2B subunit epsilon
  • 297
  • 24 Dec 2020
Topic Review
Phenylketonuria
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
  • 608
  • 24 Dec 2020
Topic Review
ACAN Gene
aggrecan
  • 386
  • 24 Dec 2020
Topic Review
SLC11A2 Gene
solute carrier family 11 member 2
  • 340
  • 24 Dec 2020
Topic Review
Pfeiffer Syndrome
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.
  • 511
  • 24 Dec 2020
Topic Review
ABL1 Gene
ABL proto-oncogene 1, non-receptor tyrosine kinase
  • 522
  • 24 Dec 2020
Topic Review
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
  • 307
  • 24 Dec 2020
Topic Review
Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.
  • 414
  • 24 Dec 2020
Topic Review
EHMT1 Gene
Euchromatic histone lysine methyltransferase 1: The EHMT1 gene provides instructions for making an enzyme called euchromatic histone methyltransferase 1. 
  • 358
  • 24 Dec 2020
Topic Review
SIX1 Gene
SIX homeobox 1
  • 326
  • 24 Dec 2020
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  • 215

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