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
ALG14 Q96F25 ALG14 UDP-N-acetylglucosaminyltransferase subunit 9.4E-04 0.722 0.308
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
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
COA8 Q96IL0 cytochrome c oxidase assembly factor 8 2.1E-04 0.682 0.538
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
COQ2 Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 1.3E-03 0.590 0.731
COX10 Q12887 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Enzyme 8.4E-02 0.623 0.654
COX14 Q96I36 cytochrome c oxidase assembly factor COX14 0.36 0.705 0.577
COX20 Q5RI15 cytochrome c oxidase assembly factor COX20 2.0E-02 0.705 0.538
COX6B1 P14854 cytochrome c oxidase subunit 6B1 0.12 0.700 0.577
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DMD P11532 dystrophin 1.00 0.423 0.923