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: 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: 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: 3166
Gene Symbol: HMX1
HMX1 		H6 family homeobox 1 0.729 0.346 0.73
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		T-box brain transcription factor 1 0.666 0.385 1.00
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: 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: 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: 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: 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: 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: 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: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
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
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
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: 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: 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: 50945
Gene Symbol: TBX22
TBX22 		T-box transcription factor 22 0.603 0.577 0.98
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: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
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
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1 		structural maintenance of chromosomes flexible hinge domain containing 1 0.631 0.615 1.00
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
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
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: 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