Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
RPL35A P18077 ribosomal protein L35a Nucleic acid binding 0.90 0.736 0.385
SON P18583 SON DNA binding protein 1.00 0.565 0.769
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
FLNA P21333 filamin A 1.00 0.419 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
LIFR P42702 LIF receptor subunit alpha Signaling 1.5E-13 0.523 0.808
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846