Disease: Developmental regression
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IL12A P29459 interleukin 12A 4.7E-02 0.491 0.808
CCR1 P32246 C-C motif chemokine receptor 1 G-protein coupled receptor 0.39 0.531 0.769
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
HTT P42858 huntingtin 1.00 0.548 0.654
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
PMS1 P54277 PMS1 homolog 1, mismatch repair system component Nucleic acid binding 1.3E-17 0.569 0.654
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
RPS20 P60866 ribosomal protein S20 Nucleic acid binding 2.1E-02 0.610 0.692
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
SCN1B Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 0.10 0.575 0.538
STAT4 Q14765 signal transducer and activator of transcription 4 Nucleic acid binding 0.77 0.471 0.769
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
IL23R Q5VWK5 interleukin 23 receptor Signaling 5.6E-04 0.466 0.769
UBAC2 Q8NBM4 UBA domain containing 2 6.3E-03 0.638 0.654
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
RNASEH2C Q8TDP1 ribonuclease H2 subunit C 5.5E-03 0.590 0.731
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
COQ2 Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 1.3E-03 0.590 0.731