Disease name

Progressive cone dystrophy
 Progressive cone dystrophy

Marker gene

Gene symbol Chromosome location Protein name
CNGB3 8q21.3 Cyclic nucleotide-gated cation channel beta-3
GNAT2 1p13.1 Guanine nucleotide-binding protein G(t) subunit alpha-2
GUCA1A 6p21.1 Guanylyl cyclase-activating protein 1
PDE6C 10q23.33 cGMP phosphodiesterase 6C

ICD 10 code

H35.5

MIM number

180020
300085
301251
304030
602093
613093

Synonym

Cone dystrophy(추체이영양(증))

Summary

Under development.