SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.710 GeneticVariation disease ORPHANET Genotyping microarray for CSNB-associated genes. 19578023 2009
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.710 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
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.710 Biomarker disease CTD_human A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 7670478 1995
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.710 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 GeneticVariation disease BEFREE Compound heterozygosity of a nonsense R193X mutation and a heterozygous deletion of 3,224 bp encompassing exon 2 in the SAG gene is the cause of Oguchi's disease in this Chinese family. qPCR analysis should be performed if there is a negative result of the mutation screening of the SAG gene in patients with Oguchi's disease. 22419846 2012
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 GermlineCausalMutation disease ORPHANET Compound heterozygosity of a nonsense R193X mutation and a heterozygous deletion of 3,224 bp encompassing exon 2 in the SAG gene is the cause of Oguchi's disease in this Chinese family. qPCR analysis should be performed if there is a negative result of the mutation screening of the SAG gene in patients with Oguchi's disease. 22419846 2012
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 GeneticVariation disease BEFREE Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene. 21447990 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		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
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 GeneticVariation disease BEFREE This method will help in identifying gene mutations associated with Oguchi disease with a rapid and reliable identification or the exclusion of the frequent mutations in the SAG gene. 17200654 2006
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.650 Biomarker disease LHGDN Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes. 15232620 2004
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 GermlineCausalMutation disease ORPHANET Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese. 15295660 2004
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 GeneticVariation disease BEFREE Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese. 15295660 2004
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.650 Biomarker disease CTD_human Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 9565049 1998
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 Biomarker disease CTD_human Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 9565049 1998
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 Biomarker disease CTD_human A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 7670478 1995
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.650 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.650 Biomarker disease HPO
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		0.650 Biomarker disease GENOMICS_ENGLAND
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		0.600 Biomarker disease CTD_human Arrestin gene mutations in autosomal recessive retinitis pigmentosa. 9565049 1998
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		0.600 Biomarker disease CTD_human A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. 7670478 1995