Disease Term Disease ID Gene Symbol Classification References Source
Cone-rod synaptic disorder, congenital nonprogressive C4041558 CABP4 Causal Pathogenic evidence from ClinVar 16960802 ClinVar
CACNA1F Causal Pathogenic evidence from ClinVar - ClinVar
GNAT1 Causal Pathogenic evidence from ClinVar - ClinVar
GNB3 Causal Pathogenic evidence from ClinVar - ClinVar
GPR179 Causal Pathogenic evidence from ClinVar - ClinVar
GRM6 Causal Pathogenic evidence from ClinVar - ClinVar
LRIT3 Causal Pathogenic evidence from ClinVar - ClinVar
NYX Causal Pathogenic evidence from ClinVar - ClinVar
PDE6B Causal Pathogenic evidence from ClinVar 8075643 ClinVar
RHO Causal Pathogenic evidence from ClinVar 8358437 ClinVar
SLC24A1 Causal Pathogenic evidence from ClinVar - ClinVar
TRPM1 Causal Pathogenic evidence from ClinVar - ClinVar
SAG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7670478 -
Congenital stationary night blindness 215 CABP4 Causal Pathogenic evidence from ClinVar - ClinVar
CACNA1F Causal Pathogenic evidence from ClinVar - ClinVar
GNAT1 Causal Pathogenic evidence from ClinVar - ClinVar
GNB3 Causal Pathogenic evidence from ClinVar - ClinVar
GPR179 Causal Pathogenic evidence from ClinVar - ClinVar
GRK1 Causal Pathogenic evidence from ClinVar - ClinVar
GRM6 Causal Pathogenic evidence from ClinVar - ClinVar
LRIT3 Causal Pathogenic evidence from ClinVar - ClinVar
NYX Causal Pathogenic evidence from ClinVar - ClinVar
PDE6B Causal Pathogenic evidence from ClinVar - ClinVar
RHO Causal Pathogenic evidence from ClinVar - ClinVar
SLC24A1 Causal Pathogenic evidence from ClinVar - ClinVar
TRPM1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNA2D4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SAG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -