Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GPC3 P51654 glypican 3 1.00 0.466 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
YWHAE P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 0.98 0.530 0.692
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
GPC4 O75487 glypican 4 0.93 0.547 0.769
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731