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
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADAMTS3 O15072 ADAM metallopeptidase with thrombospondin type 1 motif 3 Enzyme 1.0E-10 0.581 0.808
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
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
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
CCBE1 Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 1.5E-07 0.585 0.769
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
CDT1 Q9H211 chromatin licensing and DNA replication factor 1 2.6E-10 0.597 0.731
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
COG5 Q9UP83 component of oligomeric golgi complex 5 9.8E-20 0.656 0.538
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CRLF1 O75462 cytokine receptor like factor 1 Signaling 4.0E-05 0.597 0.654