MFSD8, major facilitator superfamily domain containing 8, 256471
N. diseases: 50; N. variants: 28
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.720 | GeneticVariation | disease | BEFREE | Here and for the first time, we reported on two previously variant late-infantile neuronal ceroid lipofuscinoses-associated variants in MFSD8 but in association with a form of cone-rod dystrophy known as non-syndromic macular dystrophy with central cone involvement. | 31006324 | 2019 | ||||
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0.720 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
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0.720 | GeneticVariation | disease | UNIPROT | In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. | 25227500 | 2015 | ||||
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0.720 | Biomarker | disease | GENOMICS_ENGLAND | In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. | 25227500 | 2015 | ||||
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0.720 | GeneticVariation | disease | BEFREE | In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. | 25227500 | 2015 | ||||
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0.720 | CausalMutation | disease | CLINVAR | |||||||
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0.720 | Biomarker | disease | CTD_human | |||||||
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0.720 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
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0.720 | GeneticVariation | disease | CLINVAR |