Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 GeneticVariation disease BEFREE Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and intellectual disability. 30088856 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease BEFREE Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. 21224895 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.130 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: C0025958
Disease: Microcephaly
Microcephaly 		0.130 Biomarker disease HPO