Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2
0.410 GeneticVariation phenotype BEFREE CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 24699222 2014
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2
0.410 Biomarker phenotype CTD_human Interestingly, mutations in the CNNM2 gene cause familial dominant hypomagnesaemia (MIM:607803), a rare human disorder characterized by renal and intestinal magnesium (Mg(2+)) wasting, which may lead to symptoms of Mg(2+) depletion such as tetany, seizures and cardiac arrhythmias. 23027747 2012
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2
0.410 Biomarker phenotype HPO