Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 60506
Gene Symbol: NYX
NYX
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 60506
Gene Symbol: NYX
NYX
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5959
Gene Symbol: RDH5
RDH5
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 1406
Gene Symbol: CRX
CRX
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 6103
Gene Symbol: RPGR
RPGR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 145226
Gene Symbol: RDH12
RDH12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. 31505163

2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome. 29131652

2017
Entrez Id: 7299
Gene Symbol: TYR
TYR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Genetic background-dependent role of Egr1 for eyelid development. 28778995

2017
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. 28413837

2017
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker GENOMICS_ENGLAND Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. 28677725

2017