Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ARL6IP6 Q8N6S5 ADP ribosylation factor like GTPase 6 interacting protein 6 1.8E-02 0.686 0.615
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
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
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CTNND1 O60716 catenin delta 1 Cellular structure 1.00 0.500 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DLL3 Q9NYJ7 delta like canonical Notch ligand 3 5.4E-05 0.552 0.654
DLX6 P56179 distal-less homeobox 6 Transcription factor 0.92 0.659 0.615
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
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
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
FANCF Q9NPI8 FA complementation group F 0.46 0.535 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