Disease: Episodic Kinesigenic Dyskinesia 1
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
APRT P07741 adenine phosphoribosyltransferase 5.5E-13 0.423 0.846
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ACE P12821 angiotensin I converting enzyme Enzyme 1.0E-37 0.328 0.923
ANKS6 Q68DC2 ankyrin repeat and sterile alpha motif domain containing 6 6.9E-06 0.682 0.346
ANO1 Q5XXA6 anoctamin 1 Ion channel 0.87 0.516 0.769
AQP2 P41181 aquaporin 2 Ion channel 2.5E-06 0.581 0.769
AQP3 Q92482 aquaporin 3 (Gill blood group) Ion channel 0.13 0.546 0.769
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
AVPR2 P30518 arginine vasopressin receptor 2 G-protein coupled receptor 0.56 0.568 0.769
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
CCL2 P13500 C-C motif chemokine ligand 2 Signaling 0.61 0.321 0.962
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CTSL P07711 cathepsin L Enzyme 8.0E-03 0.488 0.846
CCN2 P29279 cellular communication network factor 2 Signaling 5.0E-04 0.399 0.846
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
CUX1 P39880 Q13948 cut like homeobox 1 Transcription factor 1.00 0.465 0.846
EGF P01133 epidermal growth factor 8.5E-17 0.357 0.923
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885
EXOC5 O00471 exocyst complex component 5 Transporter 1.00 0.805 0.269
FABP1 P07148 fatty acid binding protein 1 9.8E-07 0.588 0.692
HP P00738 haptoglobin Enzyme 1.7E-05 0.412 0.885
HNF1B P35680 HNF1 homeobox B Nucleic acid binding 1.00 0.473 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IFT88 Q13099 intraflagellar transport 88 7.1E-11 0.621 0.654