rs140948465, MFSD8

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR
Ceroid Lipofuscinosis, Neuronal, 7
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
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
Ceroid Lipofuscinosis, Neuronal, 7
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
Ceroid Lipofuscinosis, Neuronal, 7
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
Ceroid Lipofuscinosis, Neuronal, 7
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
Ceroid Lipofuscinosis, Neuronal, 7
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
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
0.800 GeneticVariation CLINVAR
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
0.800 CausalMutation CLINVAR