PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.010 PosttranslationalModification disease BEFREE There is MHC isoform switching, increased adenylyl cyclase 5, and increased phosphorylation of phospholamban threonine 17 only in the D-HLHS group. 24793904 2014