Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. 31728034 2019
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE By genetically screening a family of patients diagnosed with cone-rod dystrophy, we identified a novel missense mutation with autosomal dominant inheritance pattern (c.332A>T; p.(Glu111Val); E111V from now on) in the GUCA1A gene coding for GCAP1. 30184081 2018
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 24875811 2014
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. 23428504 2013
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. 23472098 2013
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE A group of patients suffering from cone or cone-rod dystrophies carry mutations in the GCAP1 gene, and biochemical analysis of GCAP1 function revealed that for most of these mutations GCAP1 exhibits a disturbance in its Ca(2+)-sensing and its guanylate cyclase-activating properties. 20370318 2010
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE The cone and cone-rod dystrophies that are caused by mutations in RetGC1 or GCAP1 arise from a perturbation of the delicate balance of Ca2+ and cGMP within the photoreceptor cells and it is this disruption that is believed to cause cell death. 12596936 2002
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE In this paper, experimentally derived observations are reported that help in explaining why a proline-->leucine mutation at position 50 of human GCAP1 results in cone-rod dystrophy in a family carrying this mutation. 11136713 2001
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 11146732 2001
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 GeneticVariation disease BEFREE We suggest that the gain-of-function effects of R838C on RetGC-1 stimulated by GCAP-1, which are dominant in vitro and may cause an abnormal increase in cGMP synthesis in dark-adapted photoreceptors, may be the cause of the cone-rod degeneration. 10430891 1999
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.200 Biomarker disease HPO