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
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808