Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ADA P00813 adenosine deaminase Enzyme 2.9E-12 0.440 0.885 59
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808 93
BLNK Q8WV28 B cell linker Signaling 0.61 0.603 0.731 36
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808 59
CCDC114 Q96M63 coiled-coil domain containing 114 6.6E-09 0.674 0.500 42
CD19 P15391 CD19 molecule 0.90 0.430 0.885 35
CD247 P20963 CD247 molecule 1.7E-02 0.539 0.731 29
CD3D P04234 CD3d molecule 8.6E-05 0.626 0.577 22
CD3E P07766 CD3e molecule 3.4E-04 0.615 0.615 21
CD79B P40259 CD79b molecule Receptor 0.92 0.576 0.577 37
CFAP410 O43822 cilia and flagella associated protein 410 3.3E-07 0.633 0.615 54
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885 86
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 92
CR2 P20023 complement C3d receptor 2 4.7E-19 0.556 0.654 37
CXCR4 P61073 C-X-C motif chemokine receptor 4 G-protein coupled receptor 1.8E-02 0.362 0.923 36
CYBA P13498 cytochrome b-245 alpha chain 8.9E-06 0.520 0.769 42
CYBB P04839 cytochrome b-245 beta chain Ion channel 1.00 0.452 0.885 45
DDR2 Q16832 discoidin domain receptor tyrosine kinase 2 Kinase 0.55 0.541 0.769 47
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 15
FCGR2A P12318 Fc fragment of IgG receptor IIa Cell adhesion 2.0E-06 0.480 0.769 28
FMO3 P31513 flavin containing dimethylaniline monoxygenase 3 Enzyme 6.5E-16 0.638 0.500 8
GAS8 O95995 growth arrest specific 8 1.1E-12 0.636 0.654 39
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 95
ICOS Q9Y6W8 inducible T cell costimulator 3.1E-02 0.502 0.731 36