Disease: Amelogenesis imperfecta nephrocalcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.010 GeneticVariation disease BEFREE Our results demonstrated that the loss-of-function CACNA1C-Q1916R mutation contributed to ERS-related sudden cardiac death, and the phenotypic incomplete penetrance was modified by the SCN5A-R1193Q variant and sex. 28493952 2017