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: 51317
Gene Symbol: PHF21A
PHF21A
Q96BD5 PHD finger protein 21A 50 0.682 0.500 1.00 0.070 None 1.000 7 0 2012 2019
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
Q13428 treacle ribosome biogenesis factor 1 138 0.550 0.808 0.95 0.350 None 1.000 6 0 2000 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.320 None 1.000 3 0 2005 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.300 None 1.000 3 0 1995 1997
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.300 None 1.000 2 0 1997 2004
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
O75487 glypican 4 181 0.547 0.769 0.93 0.310 None 1.000 2 0 2006 2019
Entrez Id: 23067
Gene Symbol: SETD1B
SETD1B
Q9UPS6 SET domain containing 1B, histone lysine methyltransferase 33 0.722 0.423 1.00 0.020 None 1.000 2 0 2016 2018
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
Q7Z3B3 KAT8 regulatory NSL complex subunit 1 140 0.592 0.731 1.00 0.300 None 1.000 2 0 2012 2012
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
Q9NZR4 visual system homeobox 1 95 0.579 0.692 3.6E-02 0.320 None 1.000 2 0 2004 2012
Entrez Id: 317
Gene Symbol: APAF1
APAF1
O14727 apoptotic peptidase activating factor 1 145 0.525 0.769 9.6E-06 0.300 None 1.000 2 0 1998 1998
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
P52848 N-deacetylase and N-sulfotransferase 1 93 0.608 0.692 1.00 0.310 None 1.000 2 0 2005 2017
Entrez Id: 4330
Gene Symbol: MN1
MN1
Q10571 MN1 proto-oncogene, transcriptional regulator 47 0.682 0.385 1.00 0.020 None 1.000 2 0 2015 2016
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
Q99697 paired like homeodomain 2 248 0.489 0.808 0.98 0.300 None 1.000 2 0 1999 2003
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.300 None 1.000 2 0 2006 2008
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
P48436 SRY-box transcription factor 9 466 0.419 0.846 1.00 0.310 None 1.000 2 0 2002 2011
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
Q9UHF7 transcriptional repressor GATA binding 1 248 0.537 0.769 1.00 0.310 None 1.000 2 0 2001 2009
Entrez Id: 100126310
Gene Symbol: MIR876
MIR876
microRNA 876 37 0.666 0.385 0.010 None 1.000 1 0 2015 2015
Entrez Id: 100126316
Gene Symbol: MIR873
MIR873
microRNA 873 67 0.601 0.538 0.010 None 1.000 1 0 2015 2015
Entrez Id: 100288805
Gene Symbol: HYDIN2
HYDIN2
HYDIN axonemal central pair apparatus protein 2 (pseudogene) 1 0.300 None 1.000 1 0 2008 2008
Entrez Id: 10082
Gene Symbol: GPC6
GPC6
Q9Y625 glypican 6 86 0.626 0.654 0.14 0.300 None 1.000 1 0 2009 2009
Entrez Id: 10238
Gene Symbol: DCAF7
DCAF7
P61962 DDB1 and CUL4 associated factor 7 8 0.821 0.231 0.93 0.300 None 1.000 1 0 2006 2006
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 81 0.599 0.731 0.300 None 1.000 1 0 2001 2001
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
Q9NYJ7 delta like canonical Notch ligand 3 134 0.552 0.654 5.4E-05 0.300 None 1.000 1 0 2007 2007
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
Q07065 cytoskeleton associated protein 4 332 0.436 0.731 0.51 0.010 None 1.000 1 0 2002 2002
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
Q9UBV7 beta-1,4-galactosyltransferase 7 79 0.628 0.654 1.1E-04 0.300 None 1.000 1 0 2006 2006