Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZDHHC9 Q9Y397 zinc finger DHHC-type palmitoyltransferase 9 0.74 0.670 0.577
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
YWHAE P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 0.98 0.530 0.692
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SEPTIN9 Q9UHD8 septin 9 Enzyme modulator 1.00 0.548 0.769
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
PAX1 P15863 paired box 1 0.70 0.593 0.654
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885