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Q48469928-05A73FA1-AB10-4356-AC16-3DD7EAE0FB18
Q48469928-05A73FA1-AB10-4356-AC16-3DD7EAE0FB18
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48469928-05A73FA1-AB10-4356-AC16-3DD7EAE0FB18
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
P2860
Q48469928-05A73FA1-AB10-4356-AC16-3DD7EAE0FB18
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48469928-05A73FA1-AB10-4356-AC16-3DD7EAE0FB18
rank
NormalRank
type
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Statement
wasDerivedFrom
52a4ac50a4da1808b3a813c8c7a17765bd29e493
P2860
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).