Disease: Choanal Atresia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 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
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808