RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 Biomarker disease BEFREE Molecular interactions and mutational impact upon rhodopsin (G90→D90) for hindering dark adaptation of eye: A comparative structural level outlook for signaling mechanism in night blindness. 30659944 2019
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 Biomarker disease BEFREE Delayed recovery of visual sensitivity and night blindness caused by inadequate regeneration of the visual pigment rhodopsin are typical early signs of this condition. 30018116 2018
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 Biomarker disease BEFREE The decrease in the thermal stability of dark state rhodopsin is likely to be associated with higher levels of dark noise that undermine the sensitivity of rhodopsin, potentially accounting for night blindness in the early stages of RP. 23625926 2013
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 GeneticVariation disease BEFREE Different amino acid substitutions at position 90 of rhodopsin can lead to night blindness or retinitis pigmentosa. 16565402 2006
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 GeneticVariation disease LHGDN Different amino acid substitutions at position 90 of rhodopsin can lead to night blindness or retinitis pigmentosa. 16565402 2006
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 GeneticVariation disease BEFREE In an examination of the effect of three rhodopsin night blindness mutations on the rate of association of 11-cis-retinal with opsin, one of the mutations (G90D) was found to slow the rate of reaction by more than 80-fold. 12590587 2003
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 GeneticVariation disease BEFREE The T94I mutant pigment (with a bound 11-cis-retinal chromophore), like the other known rhodopsin night blindness mutants, is not active in the dark and has wild-type activity upon exposure to light. 12590588 2003
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 Biomarker disease BEFREE In night blindness resulting from defects in rhodopsin, the alpha subunit of rod transducin, or the beta subunit of rod cGMP phosphodiesterase, rod photoreceptors respond only to light intensities far brighter than normal, and the sensitivity of rods to light is similar to that of normal individuals who are not dark adapted. 11078833 2000
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 GeneticVariation disease BEFREE The apparent preservation of functioning rods despite extensive and lifelong night-blindness in this kindred is inconsistent with one current hypothesis that chronic rod activation from constitutively active mutant rhodopsin necessarily contributes significantly to photoreceptor demise in human retinal dystrophies. 7846071 1995
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.180 CausalMutation disease CLINVAR