Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CLP1 Q92989 cleavage factor polyribonucleotide kinase subunit 1 Nucleic acid binding 0.20 0.700 0.385
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HIC1 Q14526 HIC ZBTB transcriptional repressor 1 Transcription factor 0.13 0.522 0.615
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MOCS1 Q9NZB8 molybdenum cofactor synthesis 1 9.1E-07 0.743 0.231
MOCS2 O96007 O96033 molybdenum cofactor synthesis 2 4.6E-04 0.729 0.308
MYMK A6NI61 myomaker, myoblast fusion factor 1.8E-04 0.659 0.538
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808