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 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 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