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Q54532643-178972EF-1A11-49EC-8B45-A8FCABE42C6C
Q54532643-178972EF-1A11-49EC-8B45-A8FCABE42C6C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54532643-178972EF-1A11-49EC-8B45-A8FCABE42C6C
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
P2860
Q54532643-178972EF-1A11-49EC-8B45-A8FCABE42C6C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54532643-178972EF-1A11-49EC-8B45-A8FCABE42C6C
rank
NormalRank
type
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Statement
wasDerivedFrom
81485d742205c3cd67a24713f67a259b3021cab2
P2860
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene