GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE Our results indicate that the three pathogenic variants, two of which were novel, underlie AD-COD/CORD with progressive retinal atrophy, and the prevalence (0.25%, 3/1192 families) of GUCA1A-associated IRDs may be low among Japanese patients. 31728034 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE Protein-NP interactions were thoroughly investigated for the wild type (WT) GCAP1 as well as for a variant carrying the Asp 100 to Glu mutation (D100E), which prevents the binding of Ca<sup>2+</sup> to the highest affinity site and is linked to cone dystrophy. 28785759 2017
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE GUCA1A p.D100E, another mutation previously implicated in cone dystrophy, also impaired the retinal pigment epithelium and photoreceptors in zebrafish, but probably via a dominant negative effect. 28125083 2017
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. 21405999 2011
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE In this study, we investigated the Ca(2+)-induced effects on the conformation and the thermal stability of four GCAP1 variants associated with hereditary human cone dystrophies. 20213926 2010
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 Biomarker disease BEFREE Involvement of the calcium sensor GCAP1 in hereditary cone dystrophies. 20370318 2010
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE Mutations in the GUCA1A gene have been associated with different forms of cone dystrophies leading to impaired cone vision and retinal degeneration. 19459154 2009
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE We discovered a novel C312A transversion in exon 2 of the human GUCA1A gene, replacing Asn-104 (N104) in GCAP1 with Lys (K), in two affected members of a family with dominant cone dystrophy. 18706439 2008
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE The cone dystrophy in this family shares clinical and electrophysiologic characteristics with other previously described adCD caused by mutations in GUCA1A. 15735604 2005
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.100 GeneticVariation disease BEFREE Recently a mutation in the GUCA1A gene (coding for GCAP1) mapping to the 6p21.1 region was described as causing cone dystrophy in a British family. 10507726 1999