Disease: Developmental regression
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
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARHGEF9 O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 1.00 0.691 0.385
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
C4A P0C0L4 P0C0L5 complement C4A (Rodgers blood group) Enzyme modulator 1.5E-11 0.563 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769