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GUCY2D - guanylate cyclase 2D, retinal
- Synonym(s) : CYGD, LCA1, retGC, RETGC-1, retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase, ROS-GC1
- Previous symbols and names : CORD6, GUC1A4, GUC2D, LCA, cone rod dystrophy 6, guanylate cyclase 2D, membrane (retina-specific)
- Type : gene with protein product
- Chromosomal location : 17p13.1
- OMIM: 600179
- HGNC: 4689
- UniProtKB: Q02846
- Genatlas: GUCY2D
- Ensembl: ENSG00000132518
- IUPHAR-DB: 2031
- Reactome: Q02846
- LOVD: GUCY2D
Diseases list
- Disease-causing germline mutation(s) in Central areolar choroidal dystrophy
ORPHA:75377 
- Disease-causing germline mutation(s) in Cone rod dystrophy
ORPHA:1872 - Disease-causing germline mutation(s) (loss of function) in Leber congenital amaurosis
ORPHA:65
: AssessedAdditional information
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Specialised Social Services
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