Disease: Blepharoptosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
GCK P35557 glucokinase Kinase 0.63 0.523 0.808
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
INS P01308 insulin 0.30 0.445 0.923