Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
ZDHHC9 Q9Y397 zinc finger DHHC-type palmitoyltransferase 9 0.74 0.670 0.577
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
PAX1 P15863 paired box 1 0.70 0.593 0.654
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
FKTN O75072 fukutin 8.7E-07 0.511 0.692
YWHAE P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 0.98 0.530 0.692
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
EYA1 Q99502 EYA transcriptional coactivator and phosphatase 1 0.95 0.531 0.731
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769