Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 GeneticVariation disease BEFREE To characterize a series of 7 patients with cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI) owing to confirmed mutations in CNNM4, first described as "Jalili Syndrome." 29421294 2018
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 GeneticVariation disease BEFREE Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. 24194943 2013
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 GeneticVariation disease BEFREE To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili syndrome). 20706282 2010
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 Biomarker disease LHGDN Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. 19200527 2009
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 GeneticVariation disease BEFREE Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. 19200527 2009
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 Biomarker disease LHGDN The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. 19200525 2009
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 Biomarker disease HPO
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
0.150 CausalMutation disease CLINVAR