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: 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: 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: 100288687
Gene Symbol: DUX4
DUX4 		Q9UBX2 double homeobox 4 79 0.604 0.500 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 438 0.428 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 151188
Gene Symbol: ARL6IP6
ARL6IP6 		Q8N6S5 ADP ribosylation factor like GTPase 6 interacting protein 6 36 0.686 0.615 1.8E-02 0.010 None 1.000 1 0 2015 2015
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3 		Q8NEA6 GLIS family zinc finger 3 105 0.590 0.654 5.6E-08 0.010 None 1.000 1 0 2017 2017
Entrez Id: 170474
Gene Symbol: HFM
HFM 		Hemifacial microsomia 22 0.722 0.385 0.010 None 1.000 1 0 2001 2001
Entrez Id: 23118
Gene Symbol: TAB2
TAB2 		Q9NYJ8 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 72 0.617 0.654 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A 		Q7RTS3 pancreas associated transcription factor 1a 83 0.601 0.692 0.17 0.010 None 1.000 1 0 2008 2008
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC 		Q9Y4U1 metabolism of cobalamin associated C 76 0.644 0.615 1.1E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		P01344 insulin like growth factor 2 604 0.390 0.885 4.4E-02 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3855
Gene Symbol: KRT7
KRT7 		P08729 keratin 7 287 0.463 0.808 3.1E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 824 0.384 0.885 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 51604
Gene Symbol: PIGT
PIGT 		Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 79 0.633 0.615 7.3E-10 0.010 None 1.000 1 2 2014 2014
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: 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: 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: 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: 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: 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: 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: 7341
Gene Symbol: SUMO1
SUMO1 		P63165 small ubiquitin like modifier 1 133 0.533 0.731 0.86 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		Q9BZK7 TBL1X receptor 1 195 0.534 0.808 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 84720
Gene Symbol: PIGO
PIGO 		Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 87 0.636 0.615 6.1E-11 0.010 None 1.000 1 0 2017 2017
Entrez Id: 84992
Gene Symbol: PIGY
PIGY 		Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 99 0.628 0.577 9.7E-02 0.010 None 1.000 1 1 2015 2015