Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
0.300 Biomarker phenotype CTD_human Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. 19822448 2010