Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE Because homozygous mutations in MFSD8 cause neuronal ceroid lipofuscinosis (NCL), similar to homozygous mutations in GRN, we assessed rare variants in MFSD8 for relevance to FTLD through experimental follow-up studies. 30382371 2019
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 Biomarker disease BEFREE Homozygous Mfsd8((tm1a/tm1a)) mice were viable and fertile and resembled biochemically the NCL-phenotype of human CLN7 patients including the accumulation of autofluorescent material in the brain and peripheral tissues and of subunit c of mitochondrial ATP synthase in the cerebellum and nuclei of distinct brain regions, and the degeneration of photoreceptor cells in the retina. 24423645 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. 31721179 2020
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE A detailed metabolic investigation in proband C for progressive visual failure supported suspicion of neuronal ceroid lipofuscinosis type 7 conditioned by the mutation in the MFSD8 gene. 23386035 2013
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 Biomarker disease MGD Homozygous Mfsd8((tm1a/tm1a)) mice were viable and fertile and resembled biochemically the NCL-phenotype of human CLN7 patients including the accumulation of autofluorescent material in the brain and peripheral tissues and of subunit c of mitochondrial ATP synthase in the cerebellum and nuclei of distinct brain regions, and the degeneration of photoreceptor cells in the retina. 24423645 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 CausalMutation disease CLINVAR
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 Biomarker disease BEFREE Cln7, a major facilitator superfamily domain-containing protein, is affected in a late infantile-onset form of NCL. 31666534 2019
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE In one patient with an in-frame amino acid substitution mutation in CLN7/MFSD8, the disease onset was later and the disease course less aggressive than in variant late-infantile NCL. 19201763 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report. 30144815 2018
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE A variant form of late infantile NCL (vLINCL) present in Turkish patients has been considered a distinct clinical and genetic entity among the NCL, the underlying gene (CLN7) being unknown. 15024724 2004
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. 27211611 2016
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE Toward identifying the CLN7 gene we here screened the known NCL loci for homozygosity in nine Turkish vLINCL families. 15996215 2005
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE We report our linkage data on a family with late-infantile NCL and show that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). 19277732 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 Biomarker disease BEFREE Defects in the MFSD8 gene encoding the lysosomal membrane protein CLN7 lead to CLN7 disease, a neurodegenerative lysosomal storage disorder belonging to the group of neuronal ceroid lipofuscinoses. 29514215 2018