Gene: BFSP2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.030 GeneticVariation disease BEFREE A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. 18958306 2008
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.030 GeneticVariation disease BEFREE This Y-sutural cataract is caused by an E233del mutation in BFSP2 which provides additional evidence supporting mutations in BFSP2 as a cause for cataract and demonstrates phenotypic variability in cataracts caused by BFSP2. 15570218 2004
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.030 GeneticVariation disease BEFREE By sequencing the coding regions of BFSP2, we found that a deletion mutation, DeltaE233, is associated with cataracts in this family. 10739768 2000