rs768422260, CLN6

N. diseases: 2
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 ×
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 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 GeneticVariation CLINVAR Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. 19135028 2009
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 Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. 12815591 2003
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 CausalMutation CLINVAR