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Results 1 - 10 of 475 for Cases
  1. PTEN gene 
    ... that is produced. In about 10 percent of cases, Bannayan-Riley-Ruvalcaba syndrome results from the deletion ... the risk of developing breast cancer. In many cases, this increased risk occurs as part of Cowden ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  2. MT-TL1 gene 
    ... mutation in MIDD, involved in 85 percent of cases. It changes a single DNA building block (nucleotide) ... responsible for about 80 percent of all MELAS cases. This mutation impairs the ability of mitochondria to ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  3. FGFR3 gene 
    ... FGFR3 gene cause more than 99 percent of cases of achondroplasia, which is the most common form ... limbed dwarfism that is milder than achondroplasia. Many cases are caused by one of two specific FGFR3 ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  4. MT-ND1 gene 
    ... is responsible for about 13 percent of all cases of Leber hereditary optic neuropathy. This mutation replaces ... G3460A). This change is associated with moderately severe cases of Leber hereditary optic neuropathy; however, 20 percent ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  5. IGF2 gene 
    ... people with Beckwith-Wiedemann syndrome.In a few cases, Beckwith-Wiedemann syndrome has been caused by deletions ... the IC1 region are also responsible for some cases of Russell-Silver syndrome, a disorder characterized by ...
    https://medlineplus.gov/genetics/gene/igf2 - Genetics
  6. TSHR gene 
    ... from properly spanning the membrane, and in some cases the entire receptor is retained inside the cell. ... by producing more thyroid stimulating hormone. In some cases, the increased levels of thyroid stimulating hormone compensate ...
    https://medlineplus.gov/genetics/gene/tshr - Genetics
  7. SALL1 gene 
    ... amount of SALL1 protein are responsible for milder cases of Townes-Brocks syndrome, and mutations that result ... short, malfunctioning SALL1 protein underlie the more severe cases of the condition. However, other studies do not ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  8. PLAGL1 gene 
    ... proteins attach (bind) primarily to DNA. In most cases, they attach to regions near certain genes and ... PLAGL1 gene can occur. About 40 percent of cases of 6q24-related transient neonatal diabetes mellitus are ...
    https://medlineplus.gov/genetics/gene/plagl1 - Genetics
  9. LRRK2 gene 
    ... to 7 percent of familial Parkinson's disease cases. This mutation replaces the amino acid glycine with ... The incidence of the Gly2019Ser mutation in familial cases is highest among Arabs from North Africa and ...
    https://medlineplus.gov/genetics/gene/lrrk2 - Genetics
  10. EDA gene 
    ... dysplasia, accounting for more than half of all cases.Some mutations in the EDA gene change single ... of ectodermal dysplasias, "nonsyndromic" suggests that in these cases tooth agenesis occurs without the other signs and ...
    https://medlineplus.gov/genetics/gene/eda - Genetics
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