Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PKD2 Q13563 polycystin 2, transient receptor potential cation channel Ion channel 1.7E-04 0.552 0.731
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731