Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10157
Gene Symbol: AASS
AASS
Q9UDR5 aminoadipate-semialdehyde synthase 34 0.695 0.577 2.3E-12 0.100 None 0 0
Entrez Id: 10297
Gene Symbol: APC2
APC2
O95996 APC regulator of WNT signaling pathway 2 108 0.582 0.654 1.00 0.300 None 1.000 1 0 2012 2012
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.020 None 1.000 2 0 2004 2006
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.010 None 1.000 1 0 2015 2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.010 None 1.000 1 0 2015 2015
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.010 None 1.000 1 0 2015 2015
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 87 0.612 0.538 1.00 0.100 None 1.000 1 2 2017 2017
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
P20813 cytochrome P450 family 2 subfamily B member 6 388 0.428 0.846 1.9E-10 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1656
Gene Symbol: DDX6
DDX6
P26196 DEAD-box helicase 6 52 0.663 0.385 1.00 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
P23945 follicle stimulating hormone receptor G-protein coupled receptor 158 0.539 0.654 1.4E-11 0.100 None 0 0
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 131 0.573 0.731 1.00 0.300 None 1.000 3 0 1994 2000
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
P23769 GATA binding protein 2 229 0.496 0.654 0.98 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2674
Gene Symbol: GFRA1
GFRA1
P56159 GDNF family receptor alpha 1 73 0.619 0.615 0.12 0.010 None 1.000 1 0 1998 1998
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
P39905 glial cell derived neurotrophic factor Signaling 409 0.434 0.885 0.20 0.010 None 1.000 1 0 1998 1998
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
Q9BUM1 glucose-6-phosphatase catalytic subunit 3 79 0.606 0.731 4.7E-06 0.020 None 1.000 2 0 2013 2015
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
P35680 HNF1 homeobox B Nucleic acid binding 279 0.473 0.808 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
P31271 homeobox A13 126 0.552 0.654 0.96 0.010 None 1.000 1 0 2000 2000
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
P01112 HRas proto-oncogene, GTPase Enzyme modulator 698 0.378 0.885 8.0E-02 0.010 None 1.000 1 0 1983 1983
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6
P23229 integrin subunit alpha 6 137 0.539 0.769 1.9E-07 0.100 None 0 0
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
P16144 integrin subunit beta 4 Receptor 171 0.525 0.731 9.5E-19 0.100 None 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
Q8N653 leucine zipper like transcription regulator 1 152 0.547 0.808 1.0E-92 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9968
Gene Symbol: MED12
MED12
Q93074 mediator complex subunit 12 Transcription factor 340 0.476 0.769 1.00 0.100 None 0 0
Entrez Id: 745
Gene Symbol: MYRF
MYRF
Q9Y2G1 myelin regulatory factor 102 0.584 0.731 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.100 None 0 1