Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 1.000 3 1 2007 2012
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 1.000 2 1 2012 2015
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 2
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 2
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
lysine acetyltransferase 6A 0.560 0.769 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 51322
Gene Symbol: WAC
WAC
WW domain containing adaptor with coiled-coil 0.686 0.615 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
zinc finger protein 292 0.695 0.423 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
filamin C 0.568 0.615 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
KAT8 regulatory NSL complex subunit 1 0.592 0.731 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 1