Disease: Micrognathism
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
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
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
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
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
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 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
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
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
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846