Source: INFERRED

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: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.500 None 0.929 0 1 2003 2020
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.480 None 1.000 0 0 2007 2013
Entrez Id: 30062
Gene Symbol: RAX
RAX
retina and anterior neural fold homeobox 0.729 0.346 0.10
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.470 None 1.000 0 0 2004 2019
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.200 None 1.000 1 1 2005 2018
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.150 None 1.000 0 0 2009 2019
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.120 None 1.000 0 0 2009 2016
Entrez Id: 4990
Gene Symbol: SIX6
SIX6
SIX homeobox 6 0.588 0.654 0.52
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.120 None 1.000 0 0 1999 2001
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2
mab-21 like 2 0.743 0.308 0.44
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.120 None 1.000 0 0 2015 2018
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 5950
Gene Symbol: RBP4
RBP4
retinol binding protein 4 0.493 0.808 0.52
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
holocytochrome c synthase 0.559 0.731 0.89
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
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: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1
SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
semaphorin 3E 0.515 0.769 8.7E-09
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
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: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 84314
Gene Symbol: TMEM107
TMEM107
transmembrane protein 107 0.592 0.692 3.1E-08
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
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: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit 0.535 0.692 0.76
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease 0.100 None 0 0