rs104894483, CLN6

N. diseases: 3
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 CausalMutation CLINVAR Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. 21359198 2011
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CUI: C1866282
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6
0.700 CausalMutation 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 CausalMutation 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