EMX2, empty spiracles homeobox 2, 2018

N. diseases: 59; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 Biomarker disease BEFREE No major role for the EMX2 gene in schizencephaly. 18409201 2008
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 GeneticVariation disease BEFREE No pathologic mutations were identified in this cohort, suggesting that EMX2 mutations are an uncommon cause of schizencephaly. 17506092 2007
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 GeneticVariation disease BEFREE Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. 15887302 2005
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 Biomarker disease BEFREE Review of the genetic studies and the more recent personal data suggests that the role of the EMX2 gene in schizencephaly, if any, is restricted to a minority of cases, leaving the etiopathogenesis of this brain malformation still a matter of study and debate. 15921232 2005
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 GeneticVariation disease BEFREE Mutations in EMX2 in humans are associated with schizencephaly, not skeletal anomalies. 12884444 2003
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 Biomarker disease GENOMICS_ENGLAND We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. 9359037 1998
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 Biomarker disease GENOMICS_ENGLAND We previously reported the presence of EMX2 mutations in 7 out of 8 sporadic cases of schizencephaly. 9359037 1998
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 GeneticVariation disease BEFREE The present findings, together with the reported cases of schizencephaly associated with EMX2 mutations, support the hypothesis that, at least in some cases, schizencephalies are determined by deleterious mutations of this homeobox gene. 9153481 1997
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 Biomarker disease GENOMICS_ENGLAND The present findings, together with the reported cases of schizencephaly associated with EMX2 mutations, support the hypothesis that, at least in some cases, schizencephalies are determined by deleterious mutations of this homeobox gene. 9153481 1997
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 Biomarker disease HPO
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 CausalMutation disease CLINVAR
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		0.320 Biomarker disease BEFREE EMX2-independent familial schizencephaly: clinical and genetic analyses. 15887302 2005
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		0.320 GeneticVariation disease BEFREE Familial schizencephaly associated with EMX2 mutation. 9153481 1997
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		0.320 Biomarker disease CTD_human
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.310 Biomarker disease CTD_human Taken together, our study suggests that EMX2 may have important roles as a novel suppressor in human lung cancer. 20697358 2010
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.310 Biomarker disease BEFREE Taken together, our study suggests that EMX2 may have important roles as a novel suppressor in human lung cancer. 20697358 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 AlteredExpression disease BEFREE By qRT-PCR, PLSCR4 and EMX2 were significantly down-regulated in the schizophrenia suicide completers, but could not be confirmed in bipolar disorder. 17997842 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET By qRT-PCR, PLSCR4 and EMX2 were significantly down-regulated in the schizophrenia suicide completers, but could not be confirmed in bipolar disorder. 17997842 2007
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.300 Biomarker group CTD_human EMX2 is epigenetically silenced and suppresses growth in human lung cancer. 20697358 2010
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		0.300 Biomarker group CTD_human Development of the mammalian female reproductive tract. 16002989 2005
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.090 Biomarker phenotype BEFREE As EMX2 is reported to play a role in carcinogenesis, we investigated the impact of EMX2 overexpression in glioma-related cell lines. 30514244 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.090 Biomarker phenotype BEFREE Taken together, our study demonstrates that EMX2 inhibits proliferation and tumorigenesis through inactivation of the Wnt/β-catenin pathway in CRC cells. 27712600 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.090 Biomarker phenotype BEFREE While recent studies provide evidence that EMX2 regulates tumorigenesis of various solid tumors, its role in colorectal cancer remains unknown. 28830374 2017