Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.600 GeneticVariation disease UNIPROT Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. 15570218 2004
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.600 Biomarker disease GENOMICS_ENGLAND A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. 10729115 2000
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.600 GeneticVariation disease UNIPROT A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. 10729115 2000
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.600 GeneticVariation disease UNIPROT Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. 10739768 2000
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.600 CausalMutation disease CLINVAR
Entrez Id: 8419
Gene Symbol: BFSP2
BFSP2
0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 85003
Gene Symbol: BFSP2-AS1
BFSP2-AS1
0.100 CausalMutation disease CLINVAR