Source: BEFREE ×
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: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 85 0.550 0.731 1.00 0.330 None 1.000 3 0 2006 2013
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 53 0.581 0.692 1.00 0.320 None 1.000 2 0 2010 2012
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		Q12882 dihydropyrimidine dehydrogenase Enzyme 170 0.493 0.846 3.4E-22 0.320 None 1.000 2 0 2011 2011
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		O15409 forkhead box P2 117 0.545 0.808 1.00 0.310 None 1.000 1 0 2009 2016
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		Q9Y6X0 SET binding protein 1 81 0.503 0.808 1.00 0.310 None 0.500 1 0 2011 2014
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		Q9UHC6 contactin associated protein 2 110 0.530 0.846 2.9E-09 0.310 None 1.000 1 0 2010 2011
Entrez Id: 5662
Gene Symbol: PSD
PSD 		A5PKW4 pleckstrin and Sec7 domain containing 59 0.626 0.654 0.90 0.030 None 1.000 3 0 2001 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 219 0.460 0.808 1.00 0.030 None 1.000 3 2 2009 2019
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		Q96PZ0 pseudouridine synthase 7 4 0.769 0.308 1.3E-09 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		P07237 prolyl 4-hydroxylase subunit beta 174 0.488 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		O60890 oligophrenin 1 Enzyme modulator 33 0.633 0.538 1.00 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4697
Gene Symbol: NDUFA4
NDUFA4 		O00483 NDUFA4 mitochondrial complex associated Enzyme 7 0.695 0.462 2.4E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1 		P56945 BCAR1 scaffold protein, Cas family member 163 0.518 0.846 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 77 0.545 0.769 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 85 0.522 0.692 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 101 0.507 0.769 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7472
Gene Symbol: WNT2
WNT2 		P09544 Wnt family member 2 Signaling 86 0.569 0.615 1.8E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7874
Gene Symbol: USP7
USP7 		Q93009 ubiquitin specific peptidase 7 Enzyme 112 0.538 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7991
Gene Symbol: TUSC3
TUSC3 		Q13454 tumor suppressor candidate 3 Transporter 59 0.576 0.615 3.5E-06 0.010 None 1.000 1 0 2020 2020
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 37 0.590 0.577 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 81491
Gene Symbol: GPR63
GPR63 		Q9BZJ6 G protein-coupled receptor 63 G-protein coupled receptor 3 0.839 0.154 0.20 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8231
Gene Symbol: CND
CND 		Corneal dermoids 7 0.821 0.308 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4434
Gene Symbol: MSD
MSD 		microcephaly with spastic diplegia (Paine syndrome) 35 0.674 0.654 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 37 0.545 0.692 1.2E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		P08069 insulin like growth factor 1 receptor Kinase 422 0.399 0.885 0.97 0.010 None 1.000 1 0 2018 2018