Disease: Neuronal Ceroid-Lipofuscinoses ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204644
rs786204644
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218 2012
dbSNP: rs786204644
rs786204644
Entrez Id: 1203;26224
Gene Symbol: CLN5;FBXL3
CLN5;FBXL3
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406 1998