rs587778809, MFSD8

N. diseases: 2
Disease: Ceroid Lipofuscinosis, Neuronal, 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
0.700 CausalMutation CLINVAR Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 25439737 2015
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
0.700 CausalMutation CLINVAR 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
0.700 CausalMutation CLINVAR 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
0.700 CausalMutation CLINVAR 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
0.700 CausalMutation CLINVAR The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007