Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 GeneticVariation disease BEFREE A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 GeneticVariation disease BEFREE 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
0.370 GeneticVariation disease BEFREE Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 GeneticVariation disease BEFREE A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. 10191125 1999
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 GeneticVariation disease BEFREE Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 GeneticVariation disease BEFREE Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 25439737 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 Biomarker disease MGD Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease. 24423645 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 Biomarker disease BEFREE CLN7 is a polytopic lysosomal membrane protein deficient in variant late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 20406422 2010
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.370 CausalMutation disease CLINVAR