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: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 1.000 None 0.989 90 250 1997 2020
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
O15550 lysine demethylase 6A Epigenetic regulator 238 0.498 0.769 1.00 0.800 strong 0.970 33 1 2012 2020
Entrez Id: 5906
Gene Symbol: RAP1A
RAP1A
P62834 RAP1A, member of RAS oncogene family Enzyme modulator 215 0.502 0.808 0.62 0.310 None 1.000 1 0 2015 2015
Entrez Id: 5908
Gene Symbol: RAP1B
RAP1B
P61224 RAP1B, member of RAS oncogene family Enzyme modulator 116 0.565 0.769 0.91 0.310 None 1.000 1 0 2015 2015
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 1.000 24 0 2010 2019
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 1.000 1 2 2017 2017
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.020 None 1.000 2 0 2003 2005
Entrez Id: 140733
Gene Symbol: MACROD2
MACROD2
A1Z1Q3 mono-ADP ribosylhydrolase 2 57 0.686 0.423 0.43 0.020 None 1.000 2 0 2007 2018
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
P23352 anosmin 1 166 0.537 0.769 1.00 0.020 None 1.000 2 0 2003 2005
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 185 0.539 0.846 1.00 0.020 None 1.000 2 0 2017 2018
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 0.500 2 0 2005 2005
Entrez Id: 5609
Gene Symbol: MAP2K7
MAP2K7
O14733 mitogen-activated protein kinase kinase 7 Kinase 408 0.419 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6418
Gene Symbol: SET
SET
Q01105 SET nuclear proto-oncogene Enzyme modulator 183 0.507 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
P41225 SRY-box transcription factor 3 Transcription factor 151 0.535 0.731 0.45 0.010 None 1.000 1 0 2014 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7278
Gene Symbol: TUBA3C
TUBA3C
P0DPH7 P0DPH8 tubulin alpha 3c 8 0.821 0.308 4.6E-03 0.010 None 1.000 1 0 1998 1998
Entrez Id: 7404
Gene Symbol: UTY
UTY
O14607 ubiquitously transcribed tetratricopeptide repeat containing, Y-linked Transcription factor 11 0.780 0.385 0.97 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7503
Gene Symbol: XIST
XIST
X inactive specific transcript 146 0.522 0.808 0.010 None 1.000 1 0 2001 2001
Entrez Id: 8932
Gene Symbol: MBD2
MBD2
Q9UBB5 methyl-CpG binding domain protein 2 Epigenetic regulator 256 0.466 0.846 0.35 0.010 None 1.000 1 0 2020 2020
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.010 None < 0.001 1 0 2003 2003
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 2005 2005
Entrez Id: 113457
Gene Symbol: TUBA3D
TUBA3D
P0DPH7 P0DPH8 tubulin alpha 3d 10 0.839 0.269 7.2E-10 0.010 None 1.000 1 0 1998 1998
Entrez Id: 2048
Gene Symbol: EPHB2
EPHB2
P29323 EPH receptor B2 Kinase 649 0.374 0.846 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
O60341 lysine demethylase 1A Epigenetic regulator 185 0.512 0.808 1.00 0.010 None 1.000 1 0 2014 2014