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: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2
mab-21 like 2 0.743 0.308 0.44
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7
pseudouridine synthase 7 0.769 0.308 1.3E-09
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
adenosine deaminase tRNA specific 3 0.736 0.385 5.6E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.691 0.385 8.2E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1
LMBR1 domain containing 1 0.716 0.385 9.0E-11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1
ring finger and SPRY domain containing 1 0.705 0.385 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 317662
Gene Symbol: FAM149B1
FAM149B1
family with sequence similarity 149 member B1 0.663 0.423 2.5E-13
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
exosome component 9 0.705 0.423 1.8E-11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 57520
Gene Symbol: HECW2
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.705 0.423 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 6234
Gene Symbol: RPS28
RPS28
ribosomal protein S28 0.716 0.423 0.68
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L
GREB1 like retinoic acid receptor coactivator 0.686 0.423 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
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 0
Entrez Id: 114034
Gene Symbol: TOE1
TOE1
target of EGR1, exonuclease 0.682 0.462 6.0E-16
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 1144
Gene Symbol: CHRND
CHRND
cholinergic receptor nicotinic delta subunit 0.641 0.462 5.4E-09
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 3188
Gene Symbol: HNRNPH2
HNRNPH2
heterogeneous nuclear ribonucleoprotein H2 0.691 0.462 0.95
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.674 0.462 4.8E-22
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1
aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 8092
Gene Symbol: ALX1
ALX1
ALX homeobox 1 0.636 0.462 0.18
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 84300
Gene Symbol: UQCC2
UQCC2
ubiquinol-cytochrome c reductase complex assembly factor 2 0.705 0.462 1.9E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0