Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PTCH1 Q13635 patched 1 1.00 0.398 0.885
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808
HDAC6 Q9UBN7 histone deacetylase 6 Epigenetic regulator 1.00 0.465 0.846
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
TENM3 Q9P273 teneurin transmembrane protein 3 1.00 0.599 0.692
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
UFD1 Q92890 ubiquitin recognition factor in ER associated degradation 1 1.00 0.537 0.769
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577