Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNK tRNA 0.608 0.577
PWAR1 Prader Willi/Angelman region RNA 1 0.490 0.769
RNR1 A0A0C5B5G6 s-rRNA 0.626 0.769
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
CPLX1 O14810 complexin 1 0.82 0.576 0.654
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
KDM1A O60341 lysine demethylase 1A Epigenetic regulator 1.00 0.512 0.808
DIAPH1 O60610 diaphanous related formin 1 0.92 0.623 0.654
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
BRD4 O60885 bromodomain containing 4 Epigenetic regulator 1.00 0.446 0.885
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
SEC24D O94855 SEC24 homolog D, COPII coat complex component Transporter 1.3E-07 0.663 0.577
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
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