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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
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: 2146
Gene Symbol: EZH2
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit 0.376 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
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: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
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 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
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 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
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: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0