Disease: Microcephaly
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
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CAT P04040 catalase Enzyme 1.6E-10 0.359 0.962
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808
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
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
PTCH1 Q13635 patched 1 1.00 0.398 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
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
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
ELN P15502 elastin 2.1E-14 0.415 0.885
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