Disease: Oculodigitoesophagoduodenal syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 GeneticVariation disease BEFREE This region contains the genes of FAM84A, NBAS, DDX1, MYCNOS and MYCN, of which haploinsufficiency or mutations of the MYCN gene is associated with Feingold syndrome. 22842076 2012
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 Biomarker disease CTD_human Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 GeneticVariation disease BEFREE We hypothesized that mutations or deletions of highly conserved non-coding elements (HCNEs) at the MYCN locus could lead to its misregulation and thereby to FS and/or IOA. 21224895 2011
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 GeneticVariation disease BEFREE Knockout (KO) of either c-myc or N-myc genes in neural stem and precursor cells (NSC) driven by nestin-cre impairs mouse brain growth and mutation of N-myc also causes microcephaly in humans in Feingold Syndrome. 20651942 2010
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 Biomarker disease CTD_human Clinical presentation of the family was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. 19852433 2009
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 ChromosomalRearrangement disease ORPHANET Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 GermlineCausalMutation disease ORPHANET Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 GermlineCausalMutation disease ORPHANET We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. 15821734 2005
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 GeneticVariation disease BEFREE We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. 15821734 2005
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 ChromosomalRearrangement disease ORPHANET We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. 15821734 2005
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 Biomarker disease BEFREE MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome. 9268091 1997
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		0.650 CausalMutation disease CLINVAR