Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GLUL P15104 glutamate-ammonia ligase Enzyme 1.00 0.513 0.731
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769