Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
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
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
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
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
SKI P12755 SKI proto-oncogene 1.00 0.503 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
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
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808