Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ACD Q96AP0 ACD shelterin complex subunit and telomerase recruitment factor 1.1E-12 0.603 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4E1 Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 2.8E-03 0.656 0.385
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
AMPD2 Q01433 adenosine monophosphate deaminase 2 Enzyme 4.5E-07 0.663 0.577
ANKLE2 Q86XL3 ankyrin repeat and LEM domain containing 2 1.0E-10 0.691 0.500
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CAV1 Q03135 caveolin 1 Enzyme modulator 8.3E-03 0.388 0.885
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
CDK5RAP2 Q96SN8 CDK5 regulatory subunit associated protein 2 4.6E-23 0.682 0.577