DHRS3, dehydrogenase/reductase 3, 9249

N. diseases: 18; N. variants: 1
Disease: Rudiger syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406704
Disease: Rudiger syndrome 1
Rudiger syndrome 1 		0.010 GeneticVariation disease BEFREE EEC syndrome-specific mutations of TAp63γ fail to transactivate retSDR1 and an ADULT syndrome-derived mutant stimulates retSDR1 transcription significantly less than the wild-type variant of p63. 20543567 2010