GUCY2D - Gene browser

GUCY2D

guanylate cyclase 2D, retinal

HCNC Approved Symbol: GUCY2D (HGNC:4689)
Genomic Coordinates: 17:8,002,615 - 8,020,342 (17p13.1)
Synonyms: retGC, RETGC-1, ROS-GC1, CYGD, LCA1, ROS-GC, CORD6, LCA, GUC2D, GUC1A4
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

40Patients

In total, 40 patients were diagnosed with a variant in the GUCY2D gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

040
Patient count

Photophobia: 9 (22.5%)
Patient Count: 9 (22.5%)
% of total patients presenting each phenotype is shown in parentheses.
9 (22.5%)
Retinal dystrophy: 9 (22.5%)
Patient Count: 9 (22.5%)
% of total patients presenting each phenotype is shown in parentheses.
9 (22.5%)
Retinitis pigmentosa: 5 (12.5%)
Patient Count: 5 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (12.5%)
Nystagmus: 5 (12.5%)
Patient Count: 5 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (12.5%)
Retinal disease: 4 (10.0%)
Patient Count: 4 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.0%)