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Results 1 - 10 of 38 for Abnormal relationship
  1. COMP gene 
    ... Hecht JT, Vertel BM. COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. ...
    https://medlineplus.gov/genetics/gene/comp - Genetics
  2. HTRA1 gene 
    ... pain seen in people with CARASIL, although the relationship between abnormal TGF-β signaling and these features is less ...
    https://medlineplus.gov/genetics/gene/htra1 - Genetics
  3. IDH2 gene 
    ... the production of D-2-hydroxyglutarate, but the relationship between the abnormal buildup of this substance and the signs and ...
    https://medlineplus.gov/genetics/gene/idh2 - Genetics
  4. DYRK1A gene 
    ... or absent DYRK1A enzyme function likely leads to abnormal regulation of gene expression and disrupts proper neural development. However, the specific relationship between DYRK1A gene mutations and the signs and ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  5. SLC19A3 gene 
    ... basal ganglia, which help control movement, but the relationship between these specific brain abnormalities and the abnormal thiamine transporter is unknown. More About This Health ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics
  6. GPR143 gene 
    ... that this pigment is concentrated into a few abnormal macromelanosomes instead of being evenly distributed among many normal-sized melanosomes within the cell. Additional studies may help clarify the relationship between melanosomes, melanin distribution, and the reduced levels ...
    https://medlineplus.gov/genetics/gene/gpr143 - Genetics
  7. IDH1 gene 
    ... Instead, the altered enzyme takes on a new, abnormal function: the production of a ... The relationship between the mutations and the signs and symptoms ...
    https://medlineplus.gov/genetics/gene/idh1 - Genetics
  8. COMT gene 
    ... the COMT gene in each cell leads to abnormal regulation of ... between catechol-O-methyltransferase activity and the specific ...
    https://medlineplus.gov/genetics/gene/comt - Genetics
  9. EFTUD2 gene 
    ... the esophagus, and tracheoesophageal fistula, which is an abnormal connection ... The relationship between these mutations and the specific symptoms of ...
    https://medlineplus.gov/genetics/gene/eftud2 - Genetics
  10. POLR3A gene 
    ... ataxia). Development of the teeth (dentition) is also abnormal in people ... but the relationship between POLR3A gene variants and the specific signs ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
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