Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502801
rs727502801
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs779838200
rs779838200
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT
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: rs1043984708
rs1043984708
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
dbSNP: rs1275962600
rs1275962600
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
dbSNP: rs587778809
rs587778809
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
dbSNP: rs764549054
rs764549054
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
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: rs1043984708
rs1043984708
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532 2009
dbSNP: rs1043984708
rs1043984708
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
dbSNP: rs1043984708
rs1043984708
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs1043984708
rs1043984708
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119 2009