Source: ALL
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 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		O14896 interferon regulatory factor 6 Transcription factor 233 0.486 0.769 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4092
Gene Symbol: SMAD7
SMAD7 		O15105 SMAD family member 7 Transcription factor 269 0.470 0.769 0.55 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1147
Gene Symbol: CHUK
CHUK 		O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 125 0.556 0.731 0.99 0.010 None 1.000 1 0 2010 2010
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2 		O15123 angiopoietin 2 Signaling 457 0.410 0.846 0.83 0.010 None 1.000 1 0 2000 2000
Entrez Id: 11079
Gene Symbol: RER1
RER1 		O15258 retention in endoplasmic reticulum sorting receptor 1 14 0.821 0.231 0.38 0.010 None 1.000 1 0 2018 2018
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: 6314
Gene Symbol: ATXN7
ATXN7 		O15265 ataxin 7 162 0.581 0.654 0.96 0.010 None 1.000 1 0 2019 2019
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: 2255
Gene Symbol: FGF10
FGF10 		O15520 fibroblast growth factor 10 Signaling 152 0.530 0.692 0.94 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.020 None 1.000 2 0 1996 1996
Entrez Id: 10618
Gene Symbol: TGOLN2
TGOLN2 		O43493 trans-golgi network protein 2 Transporter 6 2.8E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.050 None 1.000 5 0 2000 2020
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: 10085
Gene Symbol: EDIL3
EDIL3 		O43854 EGF like repeats and discoidin domains 3 Enzyme 104 0.564 0.769 1.5E-04 0.010 None 1.000 1 0 1999 1999
Entrez Id: 326
Gene Symbol: AIRE
AIRE 		O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.010 None 1.000 1 0 2011 2011
Entrez Id: 8822
Gene Symbol: FGF17
FGF17 		O60258 fibroblast growth factor 17 Signaling 105 0.593 0.692 0.96 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C 		O60282 kinesin family member 5C Cellular structure 33 0.686 0.346 1.00 0.010 None 1.000 1 1 2014 2014
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2 		O60487 myelin protein zero like 2 40 0.653 0.500 1.1E-12 0.010 None 1.000 1 0 2019 2019
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: 1500
Gene Symbol: CTNND1
CTNND1 		O60716 catenin delta 1 Cellular structure 196 0.500 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		O75096 LDL receptor related protein 4 151 0.568 0.692 1.4E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5 		O75140 DEP domain containing 5, GATOR1 subcomplex subunit Nucleic acid binding 59 0.631 0.538 0.12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		O75360 PROP paired-like homeobox 1 117 0.576 0.615 8.8E-02 0.010 None < 0.001 1 0 2010 2010