Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
CDK10 Q15131 cyclin dependent kinase 10 Kinase 1.2E-16 0.650 0.577
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
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
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
ELN P15502 elastin 2.1E-14 0.415 0.885
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846