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 MFSD8 loss-of-function variants are mainly related to the variant late-infantile neuronal ceroid lipofuscinoses which present with progressive motor and mental regression in combination with seizures, ataxia, and visual impairment. 31006324 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype CLINVAR Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 22668694 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype CLINVAR Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 20826447 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype CLINVAR Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009