Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
ND6 P03923 NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
RNR1 A0A0C5B5G6 s-rRNA 0.626 0.769
TRNK tRNA 0.608 0.577
PWAR1 Prader Willi/Angelman region RNA 1 0.490 0.769
DUOX2 Q9NRD8 dual oxidase 2 Enzyme 4.5E-56 0.533 0.769
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885
MMP9 P14780 matrix metallopeptidase 9 Enzyme 1.9E-17 0.305 0.923
SLC12A1 Q13621 solute carrier family 12 member 1 Transporter 6.7E-17 0.631 0.538
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
TSHR P16473 thyroid stimulating hormone receptor G-protein coupled receptor 3.0E-15 0.486 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
LIFR P42702 LIF receptor subunit alpha Signaling 1.5E-13 0.523 0.808
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808