Gene: MFSD8 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607235
rs267607235
MFSD8
A 0.700 GeneticVariation CLINVAR Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 22668694

2012
dbSNP: rs868732642
rs868732642
MFSD8
A 0.700 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
dbSNP: rs267607235
rs267607235
MFSD8
A 0.700 GeneticVariation CLINVAR Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 20826447

2010
dbSNP: rs267607235
rs267607235
MFSD8
A 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009
dbSNP: rs1560747815
rs1560747815
MFSD8
A 0.700 GeneticVariation CLINVAR