Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTDP1 Q9Y5B0 CTD phosphatase subunit 1 Enzyme 6.0E-04 0.641 0.577
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EMG1 Q92979 EMG1 N1-specific pseudouridine methyltransferase Nucleic acid binding 1.5E-05 0.686 0.615
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
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
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
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
FGFRL1 Q8N441 fibroblast growth factor receptor like 1 Enzyme 1.2E-02 0.588 0.615