Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.330 limited 1.000 0 0 2006 2010
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.320 None 1.000 0 0 2014 2020
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.320 limited 1.000 0 0 2008 2011
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 2896
Gene Symbol: GRN
GRN
granulin precursor 0.435 0.846 7.0E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2008 2008
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
TIMP metallopeptidase inhibitor 3 0.445 0.923 0.63
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.380 None 1.000 0 0 1999 2017
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.320 strong 1.000 1 0 1997 2009
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
dehydrodolichyl diphosphate synthase subunit 0.468 0.885 0.25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 1509
Gene Symbol: CTSD
CTSD
cathepsin D 0.478 0.846 9.2E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
forkhead box C1 0.483 0.846 0.95
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 strong 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
frizzled class receptor 4 0.490 0.923 0.97
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2017 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.340 None 1.000 0 0 2000 2015
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
retinol binding protein 4 0.493 0.808 0.52
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0