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 HPO
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.460 CausalMutation disease CLINVAR
CUI: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		0.320 Biomarker disease CTD_human
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: 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: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		0.320 GeneticVariation disease BEFREE Familial schizencephaly associated with EMX2 mutation. 9153481 1997
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 GeneticVariation group BEFREE The different morphoclinical pictures suggest that, besides the EMX2 mutation, other factors are relevant in determining the severity of the brain malformation and clinical picture. 9153481 1997
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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 GeneticVariation disease BEFREE It is unlikely that EMX2 mutations are a clinically significant cause of IHH or Kallman's syndrome. 10560999 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.090 Biomarker phenotype BEFREE To examine the potential function of EMX2 in endometrial tumorigenesis, we investigated 20 primary tumors and 6 endometrial cancer cell lines for mutations.Two primary tumors had mutations. 11549315 2001
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.020 AlteredExpression disease BEFREE We found decreased EMX2 expression in a subset of primary endometrial tumors, and four of six endometrial cancer cell lines investigated failed to express EMX2. 11549315 2001
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.020 AlteredExpression disease BEFREE We found decreased EMX2 expression in a subset of primary endometrial tumors, and four of six endometrial cancer cell lines investigated failed to express EMX2. 11549315 2001
CUI: C2112532
Disease: Postmenopausal endometrium
Postmenopausal endometrium 		0.010 Biomarker disease BEFREE EMX2 RNA was more abundant in quiescent postmenopausal endometrium than in premenopausal endometrium. 11549315 2001
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.010 AlteredExpression disease BEFREE Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia. 12668639 2003
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: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 GeneticVariation disease BEFREE Mutations in EMX2 in humans are associated with schizencephaly, not skeletal anomalies. 12884444 2003
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.020 AlteredExpression disease LHGDN To determine whether elevated endometrial EMX2 levels were due to failure of HOXA10-mediated transcriptional repression, secondary to low HOXA10 levels in endometriosis, we transfected stromal cells with HOXA10 antisense and an EMX2-reporter construct. 15126568 2004
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.020 AlteredExpression disease BEFREE In this study, we characterize menstrual cycle-dependent expression of EMX2 in endometrium from women with and without endometriosis. 15126568 2004
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: C2931870
Disease: Familial schizencephaly
Familial schizencephaly 		0.320 Biomarker disease BEFREE EMX2-independent familial schizencephaly: clinical and genetic analyses. 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: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		0.300 Biomarker group CTD_human Development of the mammalian female reproductive tract. 16002989 2005