rs1555468632, CLN3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 CausalMutation CLINVAR A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 17947292 2008
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 CausalMutation CLINVAR Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) 10332042 1999
Juvenile Neuronal Ceroid Lipofuscinosis
CUI: C0751383
Disease: Juvenile Neuronal Ceroid Lipofuscinosis
0.700 CausalMutation CLINVAR Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 7553855 1995
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR