Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
0.010 GeneticVariation disease BEFREE Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. 17119796 2006