rs386833979, FBXL3;CLN5

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 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, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation 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, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765 2010
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
0.700 GeneticVariation CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000