SEPTIN9, septin 9, 10801

N. diseases: 150; N. variants: 26
Disease: Respiratory distress ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.010 GeneticVariation phenotype BEFREE The identification of a SEPT9 mutation in a neonate with respiratory distress due to vocal cord paralysis expands the differential diagnosis in these patients. 22981636 2013