Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 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
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
CDKN2B P42772 cyclin dependent kinase inhibitor 2B 7.3E-03 0.417 0.769
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962
GATA2 P23769 GATA binding protein 2 0.98 0.496 0.654
H3P10 H3 histone pseudogene 10 0.350 0.846
HIF1A Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 0.98 0.327 0.923
HSP90AA1 P07900 heat shock protein 90 alpha family class A member 1 Chaperone 0.86 0.411 0.923
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RPS19 P39019 ribosomal protein S19 Nucleic acid binding 0.92 0.480 0.846
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846
TOP2B Q02880 DNA topoisomerase II beta 1.00 0.612 0.615
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
TWSG1 Q9GZX9 twisted gastrulation BMP signaling modulator 1 6.1E-03 0.621 0.692
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808