Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
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
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
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
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
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
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
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
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
0.720 CausalMutation disease CLINVAR
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
0.720 Biomarker disease CTD_human
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
0.720 Biomarker disease GENOMICS_ENGLAND
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
0.720 GeneticVariation disease CLINVAR