Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		0.700 Biomarker disease GENOMICS_ENGLAND CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 24699222 2014
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		0.700 GeneticVariation disease UNIPROT CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 24699222 2014
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		0.700 GeneticVariation disease CLINVAR CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 24699222 2014
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		0.700 CausalMutation disease CLINVAR
CUI: C4225333
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 		0.700 Biomarker disease CTD_human