BFSP1, beaded filament structural protein 1, 631

N. diseases: 16; N. variants: 1
Disease: CATARACT 33, MULTIPLE TYPES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307126
rs1085307126
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C3808107
Disease:
CATARACT 33, MULTIPLE TYPES 		0.700 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
dbSNP: rs1085307126
rs1085307126
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C3808107
Disease:
CATARACT 33, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. 24379646 2013
dbSNP: rs1085307126
rs1085307126
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
CUI: C3808107
Disease:
CATARACT 33, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. 17225135 2007