Retinal cone dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Retinal Cone Dystrophy 3A C1864900 PDE6H Causal Pathogenic evidence from ClinVar 22901948, 25739440 ClinVar
RETINAL CONE DYSTROPHY 4 C1864849 CACNA2D4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26560832 -
Retinal cone dystrophy 2 C1866293 GUCY2D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8944027, 9618177, 9683616, 10636733, 10951519, 11328726, 12552567, 15111605, 16505055, 17724218, 17964524, 18332321, 18487367, 20050595, 20517349, 20683928, 21552474, 22194653, 23035049, 23734073, 24480840, 25477517, 25515582, 26253563, 26626312, 27475985, 30319355 -
Retinal Cone Dystrophy 3B C1835897 KCNV2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16909397, 18235024, 18400204, 21882291, 21911584, 23115240, 23885164 -
PUM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18235024, 21882291, 21911584, 23115240, 23885164 -