Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833979
rs386833979
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		AC 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
dbSNP: rs386833979
rs386833979
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		AC 0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765 2010
dbSNP: rs386833979
rs386833979
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C1850442
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		AC 0.700 GeneticVariation CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198 2000