EML1, EMAP like 1, 2009

N. diseases: 31; N. variants: 7
Disease: Neuronal heterotopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.120 GeneticVariation disease BEFREE As previously reported for a spontaneous mouse mutant showing a mutation in Eml1, we observe severe cortical heterotopia in the KO. 31173351 2019
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.120 GeneticVariation disease BEFREE Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. 24859200 2014
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.120 Biomarker disease HPO