Disease: Nijmegen Breakage Syndrome
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
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
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846
MDM2 Q00987 MDM2 proto-oncogene Nucleic acid binding 1.00 0.362 0.846
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
MYC P01106 MYC proto-oncogene, bHLH transcription factor Transcription factor 1.00 0.344 0.923
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
NLRP2 Q9NX02 NLR family pyrin domain containing 2 1.4E-38 0.515 0.731
PARP1 P09874 poly(ADP-ribose) polymerase 1 3.3E-04 0.389 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
POLH Q9Y253 DNA polymerase eta 3.5E-09 0.663 0.462
POLQ O75417 DNA polymerase theta Enzyme 1.3E-82 0.695 0.462
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAD50 Q92878 RAD50 double strand break repair protein 3.4E-27 0.556 0.808
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
VEGFA P15692 vascular endothelial growth factor A Signaling 2.4E-05 0.266 0.923
XRCC1 P18887 X-ray repair cross complementing 1 6.3E-09 0.421 0.923