Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
SON P18583 SON DNA binding protein 1.00 0.565 0.769
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
TCTN3 Q6NUS6 tectonic family member 3 4.2E-12 0.566 0.615