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: 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: 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: 65062
Gene Symbol: TMEM237
TMEM237 		transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
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: 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: 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: 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: 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: 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: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138 		transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 51082
Gene Symbol: POLR1D
POLR1D 		RNA polymerase I and III subunit D 0.603 0.692 0.36
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 6608
Gene Symbol: SMO
SMO 		smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
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: 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: 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
Entrez Id: 9158
Gene Symbol: FIBP
FIBP 		FGF1 intracellular binding protein 0.674 0.538 4.4E-06
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
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: 85365
Gene Symbol: ALG2
ALG2 		ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 84197
Gene Symbol: POMK
POMK 		protein O-mannose kinase 0.590 0.500 1.9E-08
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
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
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0