Disease: Choanal Atresia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
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
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808
FANCF Q9NPI8 FA complementation group F 0.46 0.535 0.731
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
FANCL Q9NW38 FA complementation group L Enzyme 5.9E-23 0.551 0.731
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769
MAD2L2 Q9UI95 mitotic arrest deficient 2 like 2 8.2E-02 0.547 0.731