Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
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
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
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
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
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
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
SOX2-OT SOX2 overlapping transcript 0.597 0.615