Source: ALL

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: 646960
Gene Symbol: PRSS56
PRSS56
serine protease 56 0.743 0.115 3.4E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.660 None 1.000 6 1 2011 2019
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
membrane frizzled-related protein 0.621 0.538 1.3E-15
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.500 None 0.938 16 1 2005 2018
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.440 None 1.000 5 0 2007 2013
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
paired like homeodomain 3 0.585 0.692 0.81
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.440 None 1.000 4 0 2006 2012
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
transmembrane protein 98 0.736 0.308 1.2E-02
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.420 None 1.000 3 2 2014 2019
Entrez Id: 3166
Gene Symbol: HMX1
HMX1
H6 family homeobox 1 0.729 0.346 0.73
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.410 None 1.000 2 0 2008 2009
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.400 None 1.000 1 0 2000 2000
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
holocytochrome c synthase 0.559 0.731 0.89
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.330 None 1.000 3 1 2007 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.320 None 1.000 3 0 2004 2009
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.320 None 1.000 3 0 2009 2014
Entrez Id: 745
Gene Symbol: MYRF
MYRF
myelin regulatory factor 0.584 0.731 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.320 strong 1.000 3 0 2019 2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
gap junction protein alpha 8 0.587 0.577 2.2E-03
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.260 None 1.000 7 0 1998 2019
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 0.850 20 0 2006 2020
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 1.000 16 0 2007 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 1.000 12 1 1994 2019
Entrez Id: 338917
Gene Symbol: VSX2
VSX2
visual system homeobox 2 0.695 0.462 1.6E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 1.000 12 3 2000 2019
Entrez Id: 27067
Gene Symbol: STAU2
STAU2
staufen double-stranded RNA binding protein 2 0.890 0.154 0.97
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 4281
Gene Symbol: MID1
MID1
midline 1 0.621 0.654 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 0 0
Entrez Id: 10928
Gene Symbol: RALBP1
RALBP1
ralA binding protein 1 0.536 0.654 0.15
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 0 0
Entrez Id: 395
Gene Symbol: ARHGAP6
ARHGAP6
Rho GTPase activating protein 6 0.769 0.269 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 0 1
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
paired box 6 0.450 0.769 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.190 None 0.900 10 1 1994 2018
Entrez Id: 220
Gene Symbol: ALDH1A3
ALDH1A3
aldehyde dehydrogenase 1 family member A3 0.578 0.654 0.14
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.180 None 1.000 8 0 2013 2018
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.568 0.654 0.18
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.150 None 0.800 5 3 2009 2018
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.150 None 0.800 5 2 2008 2019