Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
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
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
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
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
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 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
FLNA P21333 filamin A 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
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
HMGA2 P52926 high mobility group AT-hook 2 Nucleic acid binding 0.87 0.429 0.808