Disease: Blepharoptosis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
A2ML1 A8K2U0 alpha-2-macroglobulin like 1 Enzyme modulator 1.6E-34 0.590 0.692
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
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
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
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
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
EFEMP2 O95967 EGF containing fibulin extracellular matrix protein 2 Calcium-binding protein 8.2E-03 0.559 0.692
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
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769