Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.110 GeneticVariation disease BEFREE A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. 10729115 2000
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2 		0.110 Biomarker disease HPO
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.010 GeneticVariation disease BEFREE A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. 22393272 2012
Entrez Id: 2671
Gene Symbol: GFER
GFER 		0.010 GeneticVariation disease BEFREE 84, 594-604] described an R194H mutation of human ALR that led to cataract, progressive muscle hypotonia, and hearing loss in three children. 20593814 2010