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: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
Congenital ocular coloboma (disorder)
disease 0.410 None 1.000 0 0 2012 2017
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 257
Gene Symbol: ALX3
ALX3
ALX homeobox 3 0.578 0.692 1.9E-02
Congenital ocular coloboma (disorder)
disease 0.110 None 1.000 0 0 1990 1990
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
Congenital ocular coloboma (disorder)
disease 0.130 None 1.000 0 0 2012 2014
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
Congenital ocular coloboma (disorder)
disease 0.120 None 0.500 0 0 2009 2014
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
dihydropyrimidine dehydrogenase 0.493 0.846 3.4E-22
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
FGF1 intracellular binding protein 0.674 0.538 4.4E-06
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.568 0.654 0.18
Congenital ocular coloboma (disorder)
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.511 0.692 8.7E-07
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.513 0.731 9.8E-06
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
growth differentiation factor 3 0.595 0.500 4.1E-05
Congenital ocular coloboma (disorder)
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
growth differentiation factor 6 0.587 0.500 0.99
Congenital ocular coloboma (disorder)
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 3166
Gene Symbol: HMX1
HMX1
H6 family homeobox 1 0.729 0.346 0.73
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 3149
Gene Symbol: HMGB3
HMGB3
high mobility group box 3 0.604 0.615 0.80
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
lysine demethylase 6A 0.498 0.769 1.00
Congenital ocular coloboma (disorder)
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
Congenital ocular coloboma (disorder)
disease 0.100 None 0 0
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2
mab-21 like 2 0.743 0.308 0.44
Congenital ocular coloboma (disorder)
disease 0.130 None 1.000 0 0 2015 2019