Disease: Low-set, posteriorly rotated ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
DHODH Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 3.0E-03 0.576 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAB18 Q9NP72 RAB18, member RAS oncogene family 0.91 0.582 0.692
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMOC1 Q9H4F8 SPARC related modular calcium binding 1 Calcium-binding protein 9.5E-03 0.565 0.846
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692
TGDS O95455 TDP-glucose 4,6-dehydratase 2.5E-09 0.644 0.538