Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808