Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CCDC88A Q3V6T2 coiled-coil domain containing 88A Enzyme modulator 1.00 0.610 0.615
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DIS3L2 Q8IYB7 DIS3 like 3'-5' exoribonuclease 2 0.94 0.647 0.500
ELN P15502 elastin 2.1E-14 0.415 0.885
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
IL1RAPL1 Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1.00 0.617 0.692
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423