Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL3 Q13618 cullin 3 1.00 0.592 0.654
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808