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: 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
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1
0.600 CausalMutation disease CLINVAR
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1
0.600 GeneticVariation disease CLINVAR
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1
0.600 Biomarker disease GENOMICS_ENGLAND