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  Domain Name: adh_short
short chain dehydrogenase. This family contains a wide variety of dehydrogenases.
No pairwise interactions found for the domain adh_short

Total Mutations Found: 70
Total Disease Mutations Found: 44
This domain occurred 54 times on human genes (89 proteins).



  17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
  17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
  APPARENT MINERALOCORTICOID EXCESS
  APPARENT MINERALOCORTICOID EXCESS, MILD
  CORTISONE REDUCTASE DEFICIENCY 2
  CRANIOOSTEOARTHROPATHY
  D-BIFUNCTIONAL PROTEIN DEFICIENCY
  DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
  EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)
  FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
  GALACTOSE EPIMERASE DEFICIENCY
  GALACTOSE EPIMERASE DEFICIENCY, SEVERE
  LEBER CONGENITAL AMAUROSIS 13
  RETINITIS PIGMENTOSA 53


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for adh_short










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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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