Source: CLINVAR ×
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: 6654
Gene Symbol: SOS1
SOS1
Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 1.000 5 1 2007 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 1.000 4 1 2001 2012
Entrez Id: 3832
Gene Symbol: KIF11
KIF11
P52732 kinesin family member 11 Cellular structure 11 0.560 0.769 1.00 0.100 None 1.000 2 1 2014 2014
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 16 0.526 0.769 3.4E-49 0.100 None 1.000 2 1 2002 2009
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
Q92794 lysine acetyltransferase 6A Enzyme 18 0.560 0.769 1.00 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
Q14669 thyroid hormone receptor interactor 12 46 0.678 0.462 1.00 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 51 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
Q9Y484 WD repeat domain 45 17 0.647 0.423 0.99 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
Q8N2C7 unc-80 homolog, NALCN channel complex subunit 63 0.626 0.462 5.2E-02 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
O60281 zinc finger protein 292 Enzyme 26 0.695 0.423 1.00 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 82 0.380 0.808 1.00 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 52 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 41 0.551 0.885 2.8E-15 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.100 None 0 2