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
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731