Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ARL6IP6 Q8N6S5 ADP ribosylation factor like GTPase 6 interacting protein 6 1.8E-02 0.686 0.615
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808
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
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
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
DOCK6 Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 1.3E-26 0.610 0.577
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
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