Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
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
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
PLCB4 Q15147 phospholipase C beta 4 Enzyme 3.0E-06 0.610 0.731
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923