GUCY2D
Deellabo: | PGD DNA |
Gen (Gen Code): | GUCY2D |
Aliases Gen: | LCA; CYGD; LCA1; RCD2; CORD5; CORD6; GUC2D; ROSGC; retGC; GUC1A4; RETGC-1; ROS-GC1; GUCY2D |
Gen ID (NCBI): | 3000 |
OMIM Gen ID: | 600179 |
Chromosomale locatie: | 17p13.1 |
Genetische aandoening / Analyse: | Leber Congenitale Amaurosis 1 (LCA1) |
OMIM aandoening ID: | 204000 |
Overerving: | AD |
Aliases aandoening: | LEBER CONGENITAL AMAUROSIS 1; LCA1 AMAUROSIS CONGENITA OF LEBER I LCA RETINAL BLINDNESS, CONGENITAL; CRB |