rs121908080, CLN6

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family. 23180398 2013
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. 20020536 2010
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. 15265688 2004
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. 12673792 2003
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. 11727201 2002
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
0.700 CausalMutation CLINVAR
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 CausalMutation CLINVAR