Disease: Agenesis of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 GeneticVariation disease BEFREE Incomplete penetrance or haploinsufficiency of other genes from the critical region may explain the absence of corpus callosum agenesis in this patient with a ZBTB18 point mutation. 24193349 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker disease BEFREE Two copies of AKT3 and ZNF238, two previously proposed dosage sensitive candidate genes for microcephaly and agenesis of the corpus callosum, were retained in two of our patients. 20382278 2010
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker disease HPO