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: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.300 None 1.000 3 0 1998 2001
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.030 None 1.000 3 0 2017 2019
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.030 None 1.000 3 0 2011 2014
Entrez Id: 998
Gene Symbol: CDC42
CDC42
P60953 cell division cycle 42 Enzyme modulator 327 0.458 0.846 0.79 0.030 None 1.000 3 0 2018 2019
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
P58012 forkhead box L2 Transcription factor 137 0.542 0.692 0.88 0.030 None 1.000 3 0 2001 2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2010 2012
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
P48431 SRY-box transcription factor 2 Transcription factor 503 0.405 0.808 0.71 0.020 None 1.000 2 0 1999 2018
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
Q06609 RAD51 recombinase 363 0.447 0.846 2.7E-02 0.020 None 1.000 2 0 2013 2017
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
P01344 insulin like growth factor 2 604 0.390 0.885 4.4E-02 0.020 None 1.000 2 0 1997 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.020 None 1.000 2 0 2013 2018
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.310 None 1.000 2 0 2001 2014
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1996 2001
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.020 None 1.000 2 0 2004 2010
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
Q9P2Y5 UV radiation resistance associated 336 0.436 0.769 0.99 0.020 None 1.000 2 0 2013 2019
Entrez Id: 7030
Gene Symbol: TFE3
TFE3
P19532 transcription factor binding to IGHM enhancer 3 118 0.542 0.654 0.98 0.020 None 1.000 2 0 2019 2020
Entrez Id: 1977
Gene Symbol: EIF4E
EIF4E
P06730 eukaryotic translation initiation factor 4E Nucleic acid binding 317 0.448 0.846 0.94 0.020 None 1.000 2 0 2001 2019
Entrez Id: 4281
Gene Symbol: MID1
MID1
O15344 midline 1 77 0.621 0.654 0.98 0.020 None 1.000 2 0 1999 2002
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
P51843 nuclear receptor subfamily 0 group B member 1 Nuclear receptor 222 0.494 0.808 0.97 0.020 None 1.000 2 0 1998 2000
Entrez Id: 353174
Gene Symbol: ZACN
ZACN
Q401N2 zinc activated ion channel 42 0.659 0.538 4.3E-22 0.020 None 1.000 2 0 2009 2014
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
P60880 synaptosome associated protein 25 Transporter 283 0.489 0.808 0.99 0.020 None 1.000 2 0 2007 2018
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
P04000 opsin 1, long wave sensitive G-protein coupled receptor 197 0.497 0.808 0.98 0.020 None 1.000 2 0 2001 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.020 None 1.000 2 0 2013 2017
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
P15328 folate receptor alpha 174 0.522 0.885 0.13 0.020 None 1.000 2 0 2016 2017
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
P35680 HNF1 homeobox B Nucleic acid binding 279 0.473 0.808 1.00 0.020 None 1.000 2 0 2006 2015
Entrez Id: 7290
Gene Symbol: HIRA
HIRA
P54198 histone cell cycle regulator Nucleic acid binding 157 0.537 0.808 1.00 0.020 None 1.000 2 0 1996 1998