Disease: Combined immunodeficiency
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADA P00813 adenosine deaminase Enzyme 2.9E-12 0.440 0.885
AK2 P54819 adenylate kinase 2 Kinase 6.3E-05 0.678 0.423
ATN1 P54259 atrophin 1 1.00 0.409 0.885
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
CD27 P26842 CD27 molecule 1.0E-02 0.517 0.692
CD3G P09693 CD3g molecule 1.7E-05 0.695 0.346
CORO1A P31146 coronin 1A Cellular structure 0.97 0.564 0.692
CTLA4 P16410 cytotoxic T-lymphocyte associated protein 4 0.94 0.369 0.923
DCLRE1C Q96SD1 DNA cross-link repair 1C 2.5E-07 0.544 0.808
DOCK2 Q92608 dedicator of cytokinesis 2 1.00 0.674 0.462
DOCK8 Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 1.5E-11 0.578 0.731
ICOS Q9Y6W8 inducible T cell costimulator 3.1E-02 0.502 0.731
IL2RA P01589 interleukin 2 receptor subunit alpha Receptor 5.5E-02 0.389 0.885
IL2RG P31785 interleukin 2 receptor subunit gamma Signaling 0.99 0.535 0.769
LCK P06239 LCK proto-oncogene, Src family tyrosine kinase Kinase 1.00 0.564 0.769
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MSN P26038 moesin Cellular structure 1.00 0.534 0.769
MTHFD1 P11586 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Enzyme 4.5E-03 0.554 0.769
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
MYOC Q99972 myocilin Cellular structure 7.6E-12 0.595 0.500
MYOCOS A0A1B0GUC4 myocilin opposite strand 0.805 0.192
NFKB1 P19838 nuclear factor kappa B subunit 1 Transcription factor 1.00 0.396 0.923
PGM3 O95394 phosphoglucomutase 3 1.5E-05 0.610 0.769
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PNP P00491 purine nucleoside phosphorylase Enzyme 7.0E-06 0.527 0.885