Disease: Global developmental delay
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AAAS Q9NRG9 aladin WD repeat nucleoporin 2.4E-13 0.601 0.654
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 0.462
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACADSB P45954 acyl-CoA dehydrogenase short/branched chain 2.7E-11 0.691 0.500
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
ADAMTSL2 Q86TH1 ADAMTS like 2 Enzyme 1.6E-03 0.666 0.346
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
AIPL1 Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 1.2E-05 0.644 0.346