Disease: Developmental delay (disorder)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZNF462 Q96JM2 zinc finger protein 462 Transcription factor 1.00 0.711 0.462
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
TBL1XR1 Q9BZK7 TBL1X receptor 1 1.00 0.534 0.808
SUPT16H Q9Y5B9 SPT16 homolog, facilitates chromatin remodeling subunit Transcription factor 1.00 0.861 0.192
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SPOCK1 Q08629 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 Enzyme modulator 0.83 0.610 0.577
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SLC12A5 Q9H2X9 solute carrier family 12 member 5 Transporter 1.00 0.570 0.654
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SH2B1 Q9NRF2 SH2B adaptor protein 1 0.97 0.566 0.731
SGMS1 Q86VZ5 sphingomyelin synthase 1 0.95 0.674 0.577
SETD2 Q9BYW2 SET domain containing 2, histone lysine methyltransferase Epigenetic regulator 1.00 0.424 0.846
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
RBFOX1 Q9NWB1 RNA binding fox-1 homolog 1 Nucleic acid binding 0.95 0.584 0.692
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846
POU3F2 P20265 POU class 3 homeobox 2 0.92 0.700 0.423
PHF21A Q96BD5 PHD finger protein 21A 1.00 0.682 0.500
PDE1C Q14123 phosphodiesterase 1C 5.4E-09 0.700 0.423
PARN O95453 poly(A)-specific ribonuclease Nucleic acid binding 3.7E-04 0.575 0.769
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615