Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C3808107
Disease: CATARACT 33, MULTIPLE TYPES
CATARACT 33, MULTIPLE TYPES
0.500 GeneticVariation UNIPROT Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 28450710

2017

Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C3808107
Disease: CATARACT 33, MULTIPLE TYPES
CATARACT 33, MULTIPLE TYPES
0.500 GeneticVariation UNIPROT A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 24379646

2013

Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C3808107
Disease: CATARACT 33, MULTIPLE TYPES
CATARACT 33, MULTIPLE TYPES
0.500 GeneticVariation UNIPROT Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 17225135

2007