Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151295
Disease: HYPOMAGNESEMIA 6, RENAL
HYPOMAGNESEMIA 6, RENAL 		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 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: C3151295
Disease: HYPOMAGNESEMIA 6, RENAL
HYPOMAGNESEMIA 6, RENAL 		0.700 GeneticVariation disease UNIPROT CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. 21397062 2011
CUI: C3151295
Disease: HYPOMAGNESEMIA 6, RENAL
HYPOMAGNESEMIA 6, RENAL 		0.700 Biomarker disease CTD_human
CUI: C3151295
Disease: HYPOMAGNESEMIA 6, RENAL
HYPOMAGNESEMIA 6, RENAL 		0.700 CausalMutation disease CLINVAR
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 Biomarker disease BEFREE CNNM2 and NT5C2 are genes recently identified as susceptibility genes for schizophrenia in Europeans, but the exact mechanism by which these genes confer risk for schizophrenia remains unknown. 27401531 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease BEFREE We, therefore, used highly sensitive measures of allele-specific expression to assess cis-regulatory effects associated with the two best-supported schizophrenia risk variants (SNP rs11191419 and indel ch10_104957618_I/rs202213518) on the primary positional candidates BORCS7, AS3MT, CNNM2, and NT5C2 in the human brain. 27004590 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease BEFREE The AO-analysis implicated the EGFR gene, as well as loci in other genes, in the AO variation of BP-type-I and revealed for the first time the link between BP-type-I and risk variants considered specific to schizophrenia (polymorphisms in MMP16/RIPK2 and CNNM2 genes). 26596365 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 Biomarker disease PSYGENET Although the biological role of CNNM2 in schizophrenia remains unknown, these data suggest that this CNNM2 risk variant rs7914558 may have an impact on neural systems relevant to social cognition. 24311551 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease BEFREE Although the biological role of CNNM2 in schizophrenia remains unknown, these data suggest that this CNNM2 risk variant rs7914558 may have an impact on neural systems relevant to social cognition. 24311551 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease BEFREE Our findings suggest that the genetic variant in the CNNM2 gene could be implicated in the pathogenesis of schizophrenia through the GM volumetric vulnerability of the orbital regions in the inferior frontal gyri. 24160291 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 Biomarker disease PSYGENET Our findings suggest that the genetic variant in the CNNM2 gene could be implicated in the pathogenesis of schizophrenia through the GM volumetric vulnerability of the orbital regions in the inferior frontal gyri. 24160291 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease GWASDB Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.450 GeneticVariation disease GWASCAT Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.410 GeneticVariation phenotype BEFREE CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 24699222 2014
CUI: C0036572
Disease: Seizures
Seizures 		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