Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923