Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
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
NODAL Q96S42 nodal growth differentiation factor Signaling 0.97 0.588 0.731
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769