Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 GeneticVariation disease BEFREE The binding of wild-type (WT) human arrestin-1 and several mutants with substitutions in position 147 (including C147F, which causes dominant retinitis pigmentosa in humans) to phosphorylated and unphosphorylated light-activated rhodopsin was determined. 29305604 2018
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 GeneticVariation disease BEFREE A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. 28549094 2017
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 GeneticVariation disease BEFREE Of the 22 single point mutations related to retinitis pigmentosa and congenital night blindness located in the cytoplasmatic portion of rhodopsin or in S-arrestin, our models locate 16 in the interaction region and relate two others to possible dimer formation. 18175313 2008
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 Biomarker disease LHGDN Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes. 15232620 2004
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 Biomarker disease CTD_human Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 9565049 1998
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 Biomarker disease BEFREE The PBLs from patients with RP did not react to retinal S-antigen, as assessed by the lymphocyte transformation or interleukin-2 assays. 3872115 1985
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6295
Gene Symbol: SAG
SAG
0.650 Biomarker disease HPO