Source: HPO

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: 6297
Gene Symbol: SALL2
SALL2 		spalt like transcription factor 2 0.674 0.423 1.4E-04
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.420 None 1.000 0 0 2014 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.410 None 1.000 0 0 2012 2017
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.160 None 0.667 0 0 2008 2014
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.130 None 1.000 0 0 2012 2014
Entrez Id: 10413
Gene Symbol: YAP1
YAP1 		Yes associated protein 1 0.432 0.808 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.130 None 1.000 0 0 2014 2017
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2 		mab-21 like 2 0.743 0.308 0.44
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.130 None 1.000 0 0 2015 2019
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.120 None 0.500 0 0 2009 2014
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.120 None 1.000 0 0 2008 2014
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.120 None 1.000 0 0 2015 2018
Entrez Id: 338917
Gene Symbol: VSX2
VSX2 		visual system homeobox 2 0.695 0.462 1.6E-04
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.120 None 1.000 0 0 2004 2014
Entrez Id: 4990
Gene Symbol: SIX6
SIX6 		SIX homeobox 6 0.588 0.654 0.52
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.120 None 0.500 0 0 2004 2009
Entrez Id: 392255
Gene Symbol: GDF6
GDF6 		growth differentiation factor 6 0.587 0.500 0.99
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		phosphofurin acidic cluster sorting protein 1 0.603 0.615 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 257
Gene Symbol: ALX3
ALX3 		ALX homeobox 3 0.578 0.692 1.9E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.110 None 1.000 0 0 1990 1990
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		lysine demethylase 6A 0.498 0.769 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		forkhead box E3 0.568 0.654 0.18
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 9573
Gene Symbol: GDF3
GDF3 		growth differentiation factor 3 0.595 0.500 4.1E-05
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23 		TBC1 domain family member 23 0.729 0.308 1.8E-05
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A 		RAP1A, member of RAS oncogene family 0.502 0.808 0.62
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B 		RAP1B, member of RAS oncogene family 0.565 0.769 0.91
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C 		RNA polymerase I and III subunit C 0.595 0.615 6.3E-10
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
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
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0