Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
FLNB O75369 filamin B 6.1E-10 0.458 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
EDNRA P25101 endothelin receptor type A G-protein coupled receptor 0.99 0.426 0.885
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885
TGFA P01135 transforming growth factor alpha Signaling 0.72 0.432 0.885
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
RUNX2 Q13950 RUNX family transcription factor 2 Transcription factor 0.95 0.437 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EDN1 P05305 endothelin 1 Signaling 0.46 0.380 0.846