Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H 		0.300 Biomarker disease CTD_human Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. 25739440 2015
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.300 Biomarker disease CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 Biomarker disease HPO
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.100 Biomarker disease HPO
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		0.100 Biomarker disease HPO
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.100 Biomarker disease HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.100 Biomarker disease HPO
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 GermlineCausalMutation disease ORPHANET Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 GermlineCausalMutation disease ORPHANET Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 GeneticVariation disease UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 GeneticVariation disease UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW 		0.740 GeneticVariation disease UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137 2012