Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease GENOMICS_ENGLAND Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. 28586915 2017
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease GENOMICS_ENGLAND Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 25227500 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease UNIPROT 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 		0.970 GeneticVariation disease UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GermlineCausalMutation disease ORPHANET 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 		0.970 Biomarker disease MGD In summary we have generated a mouse model which is partly valuable as some but not all neuropathological features of human CLN7 disease are recapitulated thus representing an animal model to study CLN7-specific disease mechanisms. 24423645 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease CTD_human
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 CausalMutation disease 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 		0.970 CausalMutation disease CLINVAR The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 25976102 2015
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 CausalMutation disease CLINVAR The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 CausalMutation disease CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 CausalMutation disease CLINVAR 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 		0.970 CausalMutation disease CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303 2018
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 CausalMutation disease CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 GeneticVariation disease CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease BEFREE In summary we have generated a mouse model which is partly valuable as some but not all neuropathological features of human CLN7 disease are recapitulated thus representing an animal model to study CLN7-specific disease mechanisms. 24423645 2014
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 Biomarker disease BEFREE In summary, depletion of multiple soluble lysosomal proteins suggest a critical role of CLN7 for lysosomal function, which may contribute to the pathogenesis and progression of CLN7 disease. 29514215 2018
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.970 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