Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
TONSL Q96HA7 tonsoku like, DNA repair protein 2.6E-13 0.653 0.615
TCTN3 Q6NUS6 tectonic family member 3 4.2E-12 0.566 0.615
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
FUT8 Q9BYC5 fucosyltransferase 8 9.9E-03 0.603 0.692
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
CLP1 Q92989 cleavage factor polyribonucleotide kinase subunit 1 Nucleic acid binding 0.20 0.700 0.385
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
RAB18 Q9NP72 RAB18, member RAS oncogene family 0.91 0.582 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808