Disease: Severe Combined Immunodeficiency
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
AICDA Q9GZX7 activation induced cytidine deaminase Enzyme 9.2E-06 0.463 0.885
ATN1 P54259 atrophin 1 1.00 0.409 0.885
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
BCL6 P41182 BCL6 transcription repressor 0.96 0.444 0.808
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CD19 P15391 CD19 molecule 0.90 0.430 0.885
CD34 P28906 CD34 molecule 5.0E-06 0.368 0.808
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
CDK2 P24941 cyclin dependent kinase 2 Kinase 0.61 0.456 0.692
CDK4 P11802 cyclin dependent kinase 4 Kinase 6.3E-02 0.412 0.808
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
CEACAM3 P40198 CEA cell adhesion molecule 3 1.1E-09 0.494 0.731
CSF2 P04141 colony stimulating factor 2 Signaling 0.83 0.330 0.962
IFNA1 P01562 interferon alpha 1 0.371 0.923
IFNA13 P01562 interferon alpha 13 0.374 0.923
IL2RA P01589 interleukin 2 receptor subunit alpha Receptor 5.5E-02 0.389 0.885
IL6 P05231 interleukin 6 0.32 0.248 0.962
IL7 P13232 interleukin 7 0.93 0.464 0.808
JAK2 O60674 Janus kinase 2 Kinase 0.65 0.385 0.885
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
MS4A1 P11836 membrane spanning 4-domains A1 Receptor 5.1E-05 0.411 0.846
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIK3CB P42338 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta Kinase 1.00 0.322 0.885