Disease: Optic Atrophy
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
NLRP3 Q96P20 NLR family pyrin domain containing 3 8.1E-04 0.361 0.962
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
PAX6 P26367 paired box 6 1.00 0.450 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846