Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
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
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
RAB18 Q9NP72 RAB18, member RAS oncogene family 0.91 0.582 0.692
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTCH1 Q13635 patched 1 1.00 0.398 0.885
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
FUT8 Q9BYC5 fucosyltransferase 8 9.9E-03 0.603 0.692
FLNA P21333 filamin A 1.00 0.419 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846