rs267606737, CLN3

N. diseases: 3
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
0.710 GeneticVariation BEFREE Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875 2009
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.710 CausalMutation CLINVAR
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
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
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. 22545070 2012
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875 2009
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CUI: C4017059
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
0.700 CausalMutation CLINVAR