ECM1, extracellular matrix protein 1, 1893

N. diseases: 120; N. variants: 17
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations. 28434238 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO