Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
0.160 CausalMutation disease CLINVAR
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.120 CausalMutation disease CLINVAR
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
0.120 CausalMutation disease CLINVAR
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H
0.110 Biomarker disease HPO
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
0.100 CausalMutation disease CLINVAR
Entrez Id: 57010
Gene Symbol: CABP4
CABP4
0.100 GeneticVariation disease CLINVAR
Entrez Id: 583
Gene Symbol: BBS2
BBS2
0.100 CausalMutation disease CLINVAR
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
0.100 GeneticVariation disease CLINVAR
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
0.100 CausalMutation disease CLINVAR
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.100 CausalMutation disease CLINVAR
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
0.100 CausalMutation disease CLINVAR
Entrez Id: 83394
Gene Symbol: PITPNM3
PITPNM3
0.100 Biomarker disease HPO
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
0.100 CausalMutation disease CLINVAR
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.120 GeneticVariation disease BEFREE Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 9052636 1997
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
0.010 GeneticVariation disease BEFREE Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 9052636 1997
Entrez Id: 7263
Gene Symbol: TST
TST
0.010 GeneticVariation disease BEFREE Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 9052636 1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.100 GeneticVariation disease CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
0.160 GeneticVariation disease BEFREE CSNB4 is not allelic with any previously reported XLRP loci; however, the interval overlaps the locus reported to contain the cone dystrophy (COD1) gene, and both diseases are nonrecombinant with DXS993. 9418727 1997
Entrez Id: 25839
Gene Symbol: COG4
COG4
0.020 GeneticVariation disease BEFREE CSNB4 is not allelic with any previously reported XLRP loci; however, the interval overlaps the locus reported to contain the cone dystrophy (COD1) gene, and both diseases are nonrecombinant with DXS993. 9418727 1997
Entrez Id: 60506
Gene Symbol: NYX
NYX
0.010 GeneticVariation disease BEFREE CSNB4 is not allelic with any previously reported XLRP loci; however, the interval overlaps the locus reported to contain the cone dystrophy (COD1) gene, and both diseases are nonrecombinant with DXS993. 9418727 1997
Entrez Id: 2793
Gene Symbol: GNGT2
GNGT2
0.010 GeneticVariation disease BEFREE To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod dystrophy and macular dystrophy. 9743540 1998
Entrez Id: 2784
Gene Symbol: GNB3
GNB3
0.010 GeneticVariation disease BEFREE To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod dystrophy and macular dystrophy. 9743540 1998
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG
0.010 GeneticVariation disease BEFREE To screen the exons of the genes encoding the beta3-subunit (GNB3) and gammac-subunit (GNGT2) of cone transducin for mutations in a large number of unrelated patients with various forms of inherited retinal disease including cone dystrophy, cone-rod dystrophy and macular dystrophy. 9743540 1998
Entrez Id: 2078
Gene Symbol: ERG
ERG
0.030 Biomarker disease BEFREE Familial macular cone dystrophy: diagnostic value of multifocal ERG and two-color threshold perimetry. 10333111 1999