Disease: Low set ears
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
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
MKS1 Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 3.4E-16 0.505 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808