BFSP1, beaded filament structural protein 1, 631

N. diseases: 16; N. variants: 1
Disease: Nuclear non-senile cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 GermlineCausalMutation disease ORPHANET A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 24379646 2013
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.400 Biomarker disease HPO