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Results 1 - 10 of 673 for Disease
  1. GAA gene 
    ... gene have been identified in people with Pompe disease. Many of these mutations change one of the ... heart problems, and the other features of Pompe disease. More About This Health Condition acid alpha-glucosidase ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  2. PSEN2 gene 
    ... been shown to cause early-onset Alzheimer's disease. Mutations in this gene account for less than ... PSEN2 mutations that cause early-onset Alzheimer's disease change single protein building blocks (amino acids) used ...
    https://medlineplus.gov/genetics/gene/psen2 - Genetics
  3. HTT gene 
    ... variant (also called mutation) that causes Huntington's disease is known as a CAG trinucleotide repeat expansion. ... in the HTT gene. People with Huntington's disease have 36 to more than 120 CAG repeats. ...
    https://medlineplus.gov/genetics/gene/htt - Genetics
  4. ATP7B gene 
    ... than 250 ATP7B gene mutations that cause Wilson disease. About half the mutations change one of the ... ancestry. Approximately one-third of Asians with Wilson disease have a mutation that replaces the amino acid ...
    https://medlineplus.gov/genetics/gene/atp7b - Genetics
  5. EPM2A gene 
    ... Health Condition epilepsy, progressive myoclonus type 2, Lafora disease (laforin) epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) EPM2 EPM2A_HUMAN laforin LD LDE MELF ...
    https://medlineplus.gov/genetics/gene/epm2a - Genetics
  6. NF1 gene 
    ... protein NF-1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) NF1 GRP NF1 Protein NF1-GAP-Related Protein ...
    https://medlineplus.gov/genetics/gene/nf1 - Genetics
  7. DBT gene 
    ... been identified in people with maple syrup urine disease, most often in individuals with mild variants of ... other health problems associated with maple syrup urine disease. More About This Health Condition BCATE2 dihydrolipoamide branched ...
    https://medlineplus.gov/genetics/gene/dbt - Genetics
  8. NPC2 gene 
    ... gene have been found to cause Niemann-Pick disease type C2. This type of Niemann-Pick disease is characterized by a buildup of fat within ... to movement problems, neurological impairment, lung and liver disease, and speech and feeding problems. The NPC2 gene ...
    https://medlineplus.gov/genetics/gene/npc2 - Genetics
  9. PKD1 gene 
    ... have been identified in people with polycystic kidney disease. These mutations are responsible for about 85 percent of cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of ...
    https://medlineplus.gov/genetics/gene/pkd1 - Genetics
  10. PKD2 gene 
    ... have been identified in people with polycystic kidney disease. These mutations are responsible for about 15 percent of all cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most common type of ...
    https://medlineplus.gov/genetics/gene/pkd2 - Genetics
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