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Q24613849-93935FA7-E79D-4B54-9F94-441404131B82
Q24613849-93935FA7-E79D-4B54-9F94-441404131B82
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24613849-93935FA7-E79D-4B54-9F94-441404131B82
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents
P2860
Q24613849-93935FA7-E79D-4B54-9F94-441404131B82
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24613849-93935FA7-E79D-4B54-9F94-441404131B82
rank
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type
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Statement
wasDerivedFrom
b3d6b1f87b6f6c04f39382188f729ba723bf6c5f
P2860
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor