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: 4807
Gene Symbol: NHLH1
NHLH1
Q02575 nescient helix-loop-helix 1 Transcription factor 33 0.686 0.538 0.26 0.100 None 1.000 21 0 2012 2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 1
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
Q9Y2I8 WD repeat domain 37 26 0.751 0.231 0.57 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 1
Entrez Id: 101927279
Gene Symbol: EP300-AS1
EP300-AS1
EP300 antisense RNA 1 8 0.839 0.231 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.100 None 0 1
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 5
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
Q06945 SRY-box transcription factor 4 Transcription factor 246 0.489 0.808 0.93 0.030 None 1.000 3 0 2016 2019
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
P35716 SRY-box transcription factor 11 Transcription factor 246 0.494 0.808 0.86 0.020 None 1.000 2 0 2016 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.020 None 1.000 2 0 2013 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.020 None 1.000 2 1 2003 2008
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
Q15813 tubulin folding cofactor E Chaperone 146 0.575 0.692 1.7E-08 0.020 None 1.000 2 0 2002 2016
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2004 2005
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.020 None 1.000 2 0 2005 2020
Entrez Id: 652
Gene Symbol: BMP4
BMP4
P12644 bone morphogenetic protein 4 Signaling 423 0.422 0.808 0.96 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7068
Gene Symbol: THRB
THRB
P10828 thyroid hormone receptor beta Nuclear receptor 142 0.554 0.769 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
P78314 SH3 domain binding protein 2 65 0.623 0.654 1.2E-11 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
Q15223 nectin cell adhesion molecule 1 196 0.523 0.808 6.1E-02 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
P37287 phosphatidylinositol glycan anchor biosynthesis class A 140 0.575 0.654 0.96 0.010 None 1.000 1 0 2016 2016
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
Q9P2Q2 FERM domain containing 4A 71 0.650 0.538 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 79 0.626 0.615 7.1E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
Q08209 protein phosphatase 3 catalytic subunit alpha 149 0.568 0.769 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
Q9UM00 transmembrane and coiled-coil domains 1 122 0.588 0.654 9.4E-10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.010 None 1.000 1 0 1993 1993