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Q24337297-CE6C3C60-6803-43CB-B06B-295A2814026C
Q24337297-CE6C3C60-6803-43CB-B06B-295A2814026C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24337297-CE6C3C60-6803-43CB-B06B-295A2814026C
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family
P2860
Q24337297-CE6C3C60-6803-43CB-B06B-295A2814026C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24337297-CE6C3C60-6803-43CB-B06B-295A2814026C
rank
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type
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Statement
wasDerivedFrom
5726800a1934626d5180d7e4287697049b592ab8
P2860
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.