Source: BEFREE

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: 80781
Gene Symbol: COL18A1
COL18A1 		collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.420 strong 1.000 2 1 2011 2018
Entrez Id: 84146
Gene Symbol: ZNF644
ZNF644 		zinc finger protein 644 0.821 0.192 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.150 None 1.000 5 2 2011 2019
Entrez Id: 4653
Gene Symbol: MYOC
MYOC 		myocilin 0.595 0.500 7.6E-12
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.150 None 0.800 5 0 2007 2014
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.140 None 0.750 4 3 2003 2012
Entrez Id: 60506
Gene Symbol: NYX
NYX 		nyctalopin 0.678 0.192 0.13
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.130 None 1.000 3 0 2007 2015
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.130 None 1.000 3 0 2010 2019
Entrez Id: 8974
Gene Symbol: P4HA2
P4HA2 		prolyl 4-hydroxylase subunit alpha 2 0.653 0.577 2.0E-06
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 0 2015 2018
Entrez Id: 84189
Gene Symbol: SLITRK6
SLITRK6 		SLIT and NTRK like family member 6 0.760 0.269 5.7E-14
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 1 2013 2014
Entrez Id: 55214
Gene Symbol: P3H2
P3H2 		prolyl 3-hydroxylase 2 0.743 0.308 7.8E-21
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 0 2014 2015
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 0 2011 2018
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1 		LDL receptor related protein associated protein 1 0.579 0.731 4.5E-07
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 0 2013 2014
Entrez Id: 2916
Gene Symbol: GRM6
GRM6 		glutamate metabotropic receptor 6 0.700 0.308 4.5E-17
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 4 2009 2016
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.120 None 1.000 2 0 2014 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.110 None 1.000 1 0 2011 2011
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469 		zinc finger protein 469 0.584 0.769 0.72
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 64412
Gene Symbol: GZF1
GZF1 		GDNF inducible zinc finger protein 1 0.760 0.231 1.8E-03
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.110 None < 0.001 1 0 2017 2017
Entrez Id: 90161
Gene Symbol: HS6ST2
HS6ST2 		heparan sulfate 6-O-sulfotransferase 2 0.729 0.423 1.0E-03
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.110 None < 0.001 1 1 2019 2019
Entrez Id: 4060
Gene Symbol: LUM
LUM 		lumican 0.543 0.731 7.7E-02
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.100 None 0.857 14 4 2004 2017
Entrez Id: 4658
Gene Symbol: MYP2
MYP2 		myopia 2 (high grade, autosomal dominant) 0.659 0.308
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.100 None 1.000 10 0 2001 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		insulin like growth factor 1 0.318 0.885 0.27
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.090 None 0.444 9 3 2010 2017
Entrez Id: 4657
Gene Symbol: MYP1
MYP1 		myopia 1 (X-linked) 0.821 0.154
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.080 None 1.000 8 0 2004 2015
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.070 None 1.000 7 6 2007 2014
Entrez Id: 3082
Gene Symbol: HGF
HGF 		hepatocyte growth factor 0.374 0.885 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.050 None 0.800 5 2 2006 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.050 None 0.600 5 3 2007 2011