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: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 strong 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
ADAM metallopeptidase domain 9 0.560 0.654 2.9E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
ADP ribosylation factor like GTPase 13B 0.631 0.538 2.7E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 84100
Gene Symbol: ARL6
ARL6
ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2009 2009
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2014 2014
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: 23400
Gene Symbol: ATP13A2
ATP13A2
ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Bardet-Biedl syndrome 5 0.659 0.577 4.8E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Bardet-Biedl syndrome 7 0.682 0.462 7.1E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Bardet-Biedl syndrome 9 0.615 0.577 4.2E-17
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: 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: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2008 2008
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: 114902
Gene Symbol: C1QTNF5
C1QTNF5
C1q and TNF related 5 0.663 0.346 0.84
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
cadherin 3 0.560 0.615 2.8E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0