Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ATN1 P54259 atrophin 1 1.00 0.409 0.885
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
DIS3L2 Q8IYB7 DIS3 like 3'-5' exoribonuclease 2 0.94 0.647 0.500
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 0.654
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
GTF2E2 P29084 general transcription factor IIE subunit 2 Transcription factor 3.9E-02 0.617 0.692