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: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.080 None 1.000 8 0 1999 2009
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.070 None 1.000 7 0 1999 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.050 None 1.000 5 0 2012 2016
Entrez Id: 1641
Gene Symbol: DCX
DCX
O43602 doublecortin 175 0.511 0.769 0.30 0.040 None 1.000 4 0 1999 2019
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13
P35453 homeobox D13 259 0.483 0.808 8.6E-03 0.040 None 0.750 4 0 2000 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
Q02962 paired box 2 216 0.495 0.731 0.67 0.040 None 1.000 4 0 1999 2011
Entrez Id: 170474
Gene Symbol: HFM
HFM
Hemifacial microsomia 22 0.722 0.385 0.030 None 1.000 3 0 2001 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
P21333 filamin A 571 0.419 0.846 1.00 0.030 None 1.000 3 0 2008 2013
Entrez Id: 4281
Gene Symbol: MID1
MID1
O15344 midline 1 77 0.621 0.654 0.98 0.030 None 1.000 3 0 2007 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.030 None 1.000 3 2 2004 2018
Entrez Id: 5649
Gene Symbol: RELN
RELN
P78509 reelin 178 0.515 0.731 1.00 0.030 None 1.000 3 0 2005 2018
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.030 None 1.000 3 0 1998 2013
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
Q07065 cytoskeleton associated protein 4 332 0.436 0.731 0.51 0.020 None 1.000 2 0 2002 2010
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.020 None 1.000 2 1 2011 2017
Entrez Id: 145258
Gene Symbol: GSC
GSC
P56915 goosecoid homeobox 61 0.631 0.615 1.4E-02 0.020 None 1.000 2 0 2013 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.020 None 1.000 2 0 2009 2019
Entrez Id: 257
Gene Symbol: ALX3
ALX3
O95076 ALX homeobox 3 91 0.578 0.692 1.9E-02 0.020 None 1.000 2 0 1980 2014
Entrez Id: 26585
Gene Symbol: GREM1
GREM1
O60565 gremlin 1, DAN family BMP antagonist 179 0.508 0.808 0.47 0.020 None 1.000 2 0 2018 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.020 None 1.000 2 0 2007 2009
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
Q9BVA1 tubulin beta 2B class IIb 82 0.610 0.385 0.99 0.020 None 1.000 2 0 2012 2019
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.020 None 1.000 2 0 1999 2006
Entrez Id: 53820
Gene Symbol: RIPPLY3
RIPPLY3
P57055 ripply transcriptional repressor 3 8 0.839 0.192 8.4E-02 0.020 None 0.500 2 0 2011 2018
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
Q9UHF7 transcriptional repressor GATA binding 1 248 0.537 0.769 1.00 0.020 None 1.000 2 0 2017 2018
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 2002 2010
Entrez Id: 791121
Gene Symbol: SHFL1
SHFL1
Split-hand/foot malformation with long bone deficiency 1 3 1.000 0.038 0.020 None 1.000 2 0 2013 2014