Disease: Heterotopia, Periventricular, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 GeneticVariation disease UNIPROT Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation. 25160555 2014
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 GeneticVariation disease UNIPROT West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation. 23812912 2013
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 GeneticVariation disease UNIPROT Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 14647276 2004
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. 14647276 2004
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 CausalMutation disease CLINVAR
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 Biomarker disease CTD_human
CUI: C1842563
Disease: Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND