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: 196528
Gene Symbol: ARID2
ARID2
AT-rich interaction domain 2 0.543 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
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 0 0 2016 2016
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 29760
Gene Symbol: BLNK
BLNK
B cell linker 0.603 0.731 0.61
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
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 0
Entrez Id: 80776
Gene Symbol: B9D2
B9D2
B9 domain containing 2 0.606 0.577 5.3E-05
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
BAF chromatin remodeling complex subunit BCL11B 0.568 0.731 0.99
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
beta-1,4-galactosyltransferase 7 0.628 0.654 1.1E-04
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 168667
Gene Symbol: BMPER
BMPER
BMP binding endothelial regulator 0.641 0.577 6.6E-07
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
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: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1
BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 699
Gene Symbol: BUB1
BUB1
BUB1 mitotic checkpoint serine/threonine kinase 0.528 0.731 4.9E-09
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3
BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1
C-terminal binding protein 1 0.559 0.692 0.98
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0