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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CAV1 Q03135 caveolin 1 Enzyme modulator 8.3E-03 0.388 0.885
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
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
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
PAX6 P26367 paired box 6 1.00 0.450 0.769