GUCA1A, guanylate cyclase activator 1A, 2978

N. diseases: 55; N. variants: 8
Disease: Cone-Rod Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C4085590
Disease:
Cone-Rod Dystrophies 		0.020 GeneticVariation BEFREE Subjects with a Pro50Leu mutation demonstrated marked variability in expressivity from minimal abnormalities of macular function to cone-rod dystrophy. 11146732 2001
dbSNP: rs104893968
rs104893968
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
CUI: C4085590
Disease:
Cone-Rod Dystrophies 		0.020 GeneticVariation 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