Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SPECC1L Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 0.86 0.593 0.654
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SLC6A3 Q01959 solute carrier family 6 member 3 Transporter 1.00 0.453 0.885
SLC4A4 Q9Y6R1 solute carrier family 4 member 4 Transporter 1.00 0.644 0.692
SLC33A1 O00400 solute carrier family 33 member 1 Transporter 9.9E-05 0.529 0.769
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
SIX6 O95475 SIX homeobox 6 Transcription factor 0.52 0.588 0.654
SHH Q15465 sonic hedgehog signaling molecule 0.98 0.461 0.846
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SET Q01105 SET nuclear proto-oncogene Enzyme modulator 1.00 0.507 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SALL4 Q9UJQ4 spalt like transcription factor 4 Transcription factor 1.00 0.489 0.769
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
ROBO1 Q9Y6N7 roundabout guidance receptor 1 7.3E-16 0.535 0.731