Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATPAF2 Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 2.2E-09 0.729 0.423
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDC45 O75419 cell division cycle 45 Nucleic acid binding 4.6E-05 0.588 0.692
CDC6 Q99741 cell division cycle 6 1.1E-09 0.552 0.731
CDCA7 Q9BWT1 cell division cycle associated 7 1.1E-02 0.626 0.654
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CDT1 Q9H211 chromatin licensing and DNA replication factor 1 2.6E-10 0.597 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
CILK1 Q9UPZ9 ciliogenesis associated kinase 1 Kinase 1.3E-05 0.545 0.808
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769