Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 22668694

2012
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 20826447

2010
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009