Disease: Jalili syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 AlteredExpression disease BEFREE CNNM4 is abundant in the brain and the intestinal tract, and its abnormal activity causes Jalili Syndrome. 31842432 2019
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 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: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE Mutations in cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene cause JS. 29421602 2018
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE Whole exome sequencing was then performed for the three affected individuals and identified a homozygous nonsense mutation (c.C1813T, p.R605X) in the cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene located within the 2p14-2q14 Jalili syndrome locus. 29322253 2018
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. 28246031 2017
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE We describe three siblings with clinical features of JS with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S). 27070327 2017
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE Mutation analysis revealed a novel mutation (c.1091delG) in homozygous form in the patients and as a heterozygous form in the normal carrier subjects.ConclusionWe identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome. 27419834 2016
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Mutation analysis revealed a novel mutation (c.1091delG) in homozygous form in the patients and as a heterozygous form in the normal carrier subjects.ConclusionWe identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome. 27419834 2016
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. 24194943 2013
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GermlineCausalMutation disease ORPHANET Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. 24194943 2013
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease BEFREE The diagnosis was assured on the basis of clinical examinations and molecular genetic analysis of the CNNM4 gene, which was previously shown to cause Jalili syndrome. 21728811 2012
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 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: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 Biomarker disease BEFREE Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis. 19200527 2009
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GermlineCausalMutation disease ORPHANET 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: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 Biomarker disease BEFREE 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: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease UNIPROT 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: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease UNIPROT Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis. 19200527 2009
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3495589
Disease: Jalili syndrome
Jalili syndrome 		0.800 GeneticVariation disease CLINVAR