Disease: Short neck
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BBIP1 A8MTZ0 BBSome interacting protein 1 4.2E-03 0.695 0.423
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
GPC4 O75487 glypican 4 0.93 0.547 0.769
WDPCP O95876 WD repeat containing planar cell polarity effector 1.1E-10 0.576 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GPC3 P51654 glypican 3 1.00 0.466 0.808
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
YWHAE P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 0.98 0.530 0.692
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
HBA2 P69905 hemoglobin subunit alpha 2 3.1E-03 0.512 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731