Disease: Choanal Atresia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH1A3 P47895 aldehyde dehydrogenase 1 family member A3 Enzyme 0.14 0.578 0.654
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
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
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
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