Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.380 Biomarker GENOMICS_ENGLAND

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.340 Biomarker GENOMICS_ENGLAND

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.340 Biomarker GENOMICS_ENGLAND

Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 4942
Gene Symbol: OAT
OAT
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 23418
Gene Symbol: CRB1
CRB1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. 21484995

2011

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 15452077

2004

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
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: 652
Gene Symbol: BMP4
BMP4
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 5015
Gene Symbol: OTX2
OTX2
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.320 Biomarker GENOMICS_ENGLAND