Disease: Telecanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
FLNB O75369 filamin B 6.1E-10 0.458 0.923
FOXC1 Q12948 forkhead box C1 Transcription factor 0.95 0.483 0.846
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885
MID1 O15344 midline 1 0.98 0.621 0.654
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654
TAPT1 Q6NXT6 transmembrane anterior posterior transformation 1 3.2E-02 0.674 0.538
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846