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
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DHODH Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 3.0E-03 0.576 0.769
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
IRF6 O14896 interferon regulatory factor 6 Transcription factor 1.00 0.486 0.769
MAD2L2 Q9UI95 mitotic arrest deficient 2 like 2 8.2E-02 0.547 0.731
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808