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
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
LCA5 Q86VQ0 lebercilin LCA5 4.1E-05 0.674 0.269
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577
NDUFB3 O43676 NADH:ubiquinone oxidoreductase subunit B3 1.6E-05 0.705 0.538
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692