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
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ADGRV1 Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 3.2E-39 0.572 0.731
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
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
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
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CIC Q96RK0 capicua transcriptional repressor 1.00 0.523 0.692
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COA8 Q96IL0 cytochrome c oxidase assembly factor 8 2.1E-04 0.682 0.538
COG8 Q96MW5 component of oligomeric golgi complex 8 3.0E-09 0.653 0.500
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385