Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
ATP8A2 Q9NTI2 ATPase phospholipid transporting 8A2 Transporter 1.2E-12 0.659 0.577
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
CA8 P35219 carbonic anhydrase 8 8.3E-03 0.595 0.654
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CCN6 O95389 cellular communication network factor 6 Signaling 6.2E-04 0.568 0.731
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL9A1 P20849 collagen type IX alpha 1 chain 3.1E-19 0.566 0.731
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769
COL9A3 Q14050 collagen type IX alpha 3 chain 3.3E-12 0.569 0.769
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DNA2 P51530 DNA replication helicase/nuclease 2 1.3E-18 0.626 0.731
DNAJC21 Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 2.1E-07 0.606 0.731
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
EIF2AK3 Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 2.8E-03 0.501 0.808