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Results 1 - 10 of 1,689 for Known
  1. Spastic paraplegia type 4 
    Spastic paraplegia type 4 (also known as SPG4) is the most common of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4 - Genetics
  2. LYST gene 
    The LYST gene (also known as CHS1) provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  3. Mosaic variegated aneuploidy syndrome 
    ... instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra ... trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  4. Histiocytosis-lymphadenopathy plus syndrome 
    Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. ...
    https://medlineplus.gov/...stiocytosis-lymphadenopathy-plus-syndrome - Genetics
  5. KHDC3L gene 
    ... for making a protein whose role is not known. The KHDC3L protein is thought to be involved in regulating gene activity (expression) through a phenomenon known as genomic imprinting. Through genomic imprinting, certain genes ...
    https://medlineplus.gov/genetics/gene/khdc3l - Genetics
  6. Autosomal dominant hyper-IgE syndrome 
    Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects ... the maturation of T cells (specifically a subset known as Th17 cells) and other immune cells. The ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  7. Freeman-Sheldon syndrome 
    Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  8. Depression 
    Depression (also known as major depression or major depressive disorder) is a psychiatric disorder that affects mood, behavior, and overall health. ... related in part to hormonal factors. Depression is known to run in families, suggesting that genetic factors ...
    https://medlineplus.gov/genetics/condition/depression - Genetics
  9. CDT1 gene 
    ... s DNA before the cell divides (a process known as DNA replication). The protein produced from this gene is one of a group of proteins known as the pre-replication complex. In a multi- ...
    https://medlineplus.gov/genetics/gene/cdt1 - Genetics
  10. STAT3 gene 
    The STAT3 gene is part of a family known as the STAT genes. These genes provide instructions ... normal maturation of T cells (specifically a subset known as Th17 cells) and other immune system cells. ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
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