Disease: Short stature
Source: INFERRED ×
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
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923
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
LMNA P02545 lamin A/C 1.00 0.384 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTCH1 Q13635 patched 1 1.00 0.398 0.885
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
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