Property Summary

NCBI Gene PubMed Count 9
PubMed Score 21.18
PubTator Score 9.82

Knowledge Summary


No data available


  Disease (4)

Disease Target Count
PERRS Gene 2
Disease Target Count P-value
psoriasis 6685 1.6e-35
facioscapulohumeral dystrophy 286 1.5e-04
Disease Target Count Z-score Confidence
Bradyopsia 10 7.528 3.8
Cone dystrophy 59 4.25 2.1

Gene RIF (5)

19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19818506 This is the first report describing a nonsense mutation in RGS9.
18318613 As the light level is increased and the PDE6* concentration in the normal rises relative to that in the observer lacking RGS9-1, the temporal advantage of the latter is soon lost, leaving only the deficit due to delayed deactivation.
17698770 homozygous mutations in R9AP gene that encodes the photoreceptor GTPase accelerating protein and its anchor protein, respectively, have been identifird in patients with bradyopsia.
14702087 five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones

AA Sequence

ALAAILFGAVLLAAVALAVCVAKLS                                                 211 - 235

Text Mined References (10)

PMID Year Title
23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19818506 2010 Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
18318613 2008 The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.
17698770 2007 Bradyopsia in an Asian man.
14702087 2004 Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12560335 2003 Activation of RGS9-1GTPase acceleration by its membrane anchor, R9AP.
12119397 2002 R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.