Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150418024
rs150418024
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C4015371
Disease:
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		0.800 GeneticVariation UNIPROT Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. 25227500 2015
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
dbSNP: rs118203978
rs118203978
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.800 GeneticVariation UNIPROT
dbSNP: rs118203978
rs118203978
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 GeneticVariation CLINVAR