CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46
Disease: Adult Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs154774633
rs154774633
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011
dbSNP: rs154774634
rs154774634
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011
dbSNP: rs154774635
rs154774635
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011
dbSNP: rs154774636
rs154774636
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011
dbSNP: rs154774638
rs154774638
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011
dbSNP: rs154774641
rs154774641
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.700 GeneticVariation UNIPROT Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. 21549341 2011