Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
LMNA P02545 lamin A/C 1.00 0.384 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846