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Results 1 - 10 of 1,305 for Genes
  1. WAGR syndrome 
    ... syndrome are related to the loss of multiple genes on the short arm of chromosome 11. WAGR syndrome is often described as a contiguous gene deletion syndrome because it is caused by the ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  2. Prader-Willi syndrome 
    ... is caused by the loss of function of genes in a particular region of chromosome 15. People ... copy of this chromosome from each parent. Some genes are turned on (active) only on the copy ...
    https://medlineplus.gov/genetics/condition/prader-willi-syndrome - Genetics
  3. Rubinstein-Taybi syndrome 
    ... to 125,000 newborns. Mutations in the CREBBP gene cause about half of cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  4. Yuan-Harel-Lupski syndrome 
    ... The duplicated region always contains at least two genes, RAI1 and PMP22. Researchers believe that having an extra copy of both of these genes underlies the characteristic features of YUHAL syndrome.The ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  5. Leptin receptor deficiency 
    ... deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the ... help produce a feeling of fullness (satiety).LEPR gene mutations that cause leptin receptor deficiency prevent the ...
    https://medlineplus.gov/.../condition/leptin-receptor-deficiency - Genetics
  6. Williams syndrome 
    ... 7. The deleted region includes 25 to 27 genes, and researchers believe that a loss of several of these genes contributes to the characteristic features of this disorder. ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  7. Smith-Magenis syndrome 
    ... each cell.Although the deleted region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, underlies many of the characteristic features of ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  8. Familial dysautonomia 
    ... in the general population. Mutations in the ELP1 gene cause familial dysautonomia. The ELP1 gene provides instructions for making a protein that is ... dysautonomia have two copies of the same ELP1 gene mutation in each cell. This mutation can disrupt ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  9. Lysinuric protein intolerance 
    ... unknown. Variants (also called mutations) in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+ ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  10. Riboflavin transporter deficiency neuronopathy 
    ... caused by mutations in the SLC52A2 or SLC52A3 gene. These genes provide instructions for making related proteins called riboflavin transporters: RFVT2 is produced from the SLC52A2 gene, and RFVT3 is produced from the SLC52A3 gene. ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
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