Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 652
Gene Symbol: BMP4
BMP4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. 29617172

2018

Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. 27419834

2016

Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. 24504161

2014

Entrez Id: 4935
Gene Symbol: GPR143
GPR143
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 19390656

2009

Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases. 16199541

2006

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

Entrez Id: 83552
Gene Symbol: MFRP
MFRP
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: 83552
Gene Symbol: MFRP
MFRP
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 4693
Gene Symbol: NDP
NDP
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: 375298
Gene Symbol: CERKL
CERKL
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: 169522
Gene Symbol: KCNV2
KCNV2
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: 64218
Gene Symbol: SEMA4A
SEMA4A
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
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: 375298
Gene Symbol: CERKL
CERKL
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