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: 1253
Gene Symbol: CMTX2
CMTX2
Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) 1 1.000 0.077 0.010 None 1.000 1 0 1995 1995
Entrez Id: 64518
Gene Symbol: TEKT3
TEKT3
Q9BXF9 tektin 3 Cellular structure 1 1.000 0.077 2.0E-17 0.010 None 1.000 1 0 2006 2006
Entrez Id: 7824
Gene Symbol: D1S111
D1S111
Minisatellite 33.6 2 0.931 0.115 0.010 None 1.000 1 0 1992 1992
Entrez Id: 7880
Gene Symbol: MBS2
MBS2
Moebius syndrome 2 3 0.931 0.115 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1689
Gene Symbol: DFNA7
DFNA7
deafness, autosomal dominant 7 5 0.861 0.154 0.010 None 1.000 1 0 2008 2008
Entrez Id: 317664
Gene Symbol: DFNA49
DFNA49
deafness, autosomal dominant 49 5 0.861 0.154 0.010 None 1.000 1 0 2008 2008
Entrez Id: 653188
Gene Symbol: GUSBP3
GUSBP3
GUSB pseudogene 3 5 0.861 0.077 0.010 None 1.000 1 0 2008 2008
Entrez Id: 728411
Gene Symbol: GUSBP1
GUSBP1
Q15486 GUSB pseudogene 1 5 0.861 0.077 0.010 None 1.000 1 0 2008 2008
Entrez Id: 5545
Gene Symbol: PRB4
PRB4
P10163 proline rich protein BstNI subfamily 4 7 0.861 0.231 1.3E-09 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1254
Gene Symbol: CMTX3
CMTX3
Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 8 0.821 0.154 0.040 None 1.000 4 0 2006 2018
Entrez Id: 10540
Gene Symbol: DCTN2
DCTN2
Q13561 dynactin subunit 2 Cellular structure 8 0.805 0.154 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 11039
Gene Symbol: GUSBP14
GUSBP14
GUSB pseudogene 14 8 0.839 0.077 0.010 None 1.000 1 0 2008 2008
Entrez Id: 127003
Gene Symbol: C1orf194
C1orf194
Q5T5A4 chromosome 1 open reading frame 194 8 0.792 0.115 4.0E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1821
Gene Symbol: DRP2
DRP2
Q13474 dystrophin related protein 2 8 0.805 0.115 3.7E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 389072
Gene Symbol: PLEKHM3
PLEKHM3
Q6ZWE6 pleckstrin homology domain containing M3 8 0.861 0.231 1.0E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2728
Gene Symbol: GLC3B
GLC3B
glaucoma 3, primary infantile, B 11 0.769 0.154 0.010 None 1.000 1 0 1996 1996
Entrez Id: 653689
Gene Symbol: GSTT2B
GSTT2B
P0CG30 glutathione S-transferase theta 2B (gene/pseudogene) 11 0.792 0.385 0.72 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2953
Gene Symbol: GSTT2
GSTT2
P0CG29 glutathione S-transferase theta 2 (gene/pseudogene) 14 0.760 0.423 1.5E-02 0.210 None 1.000 2 0 2012 2017
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 2014 2014
Entrez Id: 113146
Gene Symbol: AHNAK2
AHNAK2
Q8IVF2 AHNAK nucleoprotein 2 15 0.780 0.462 6.5E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9542
Gene Symbol: NRG2
NRG2
O14511 neuregulin 2 Signaling 15 0.780 0.308 1.00 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4640
Gene Symbol: MYO1A
MYO1A
Q9UBC5 myosin IA Cellular structure 16 0.769 0.269 8.9E-46 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2
Q9NR77 peroxisomal membrane protein 2 Receptor 16 0.743 0.192 9.2E-03 0.010 None 1.000 1 0 2006 2006
Entrez Id: 121227
Gene Symbol: LRIG3
LRIG3
Q6UXM1 leucine rich repeats and immunoglobulin like domains 3 Receptor 18 0.743 0.231 1.2E-09 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
P12074 cytochrome c oxidase subunit 6A1 Enzyme 18 0.780 0.154 2.3E-03 0.210 None 1.000 1 0 2014 2014