Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation ORPHANET A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 24379646

2013