Gene table of BFSP1 : beaded filament structural protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BFSP1	OMIM link	Number of associated genes	genes
PS116200	CATARACT	OMIM	link to OMIM	33	GCNT2, CRYGD, VIM, CRYBB2, PITX3, UNC45B, BFSP1, GJA8, MAF, AGK, EPHA2, CRYBB3, MIP, CRYBA2, CRYGS, CRYBB1, FYCO1, SIPA1L3, CRYAB, GJA3, BFSP2, TDRD7, HSF4, CHMP4B, CRYAA, LIM2, WFS1, CRYBA4, LSS, CRYBA1, CRYGB, CRYGC, NHS

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
structural constituent of cytoskeleton	GO:0005200	5.12
structural constituent of eye lens	GO:0005212	6.74
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
structural molecule activity	GO:0005198	3.1