Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GNS P15586 glucosamine (N-acetyl)-6-sulfatase Enzyme 5.6E-04 0.705 0.538
PAX1 P15863 paired box 1 0.70 0.593 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
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
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
PBX1 P40424 PBX homeobox 1 Transcription factor 1.00 0.534 0.846