Disease: Congenital Hyperinsulinism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
APPL1 Q9UKG1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 0.80 0.626 0.500
BLK P51451 BLK proto-oncogene, Src family tyrosine kinase Kinase 8.3E-14 0.585 0.769
CDKN1A P38936 cyclin dependent kinase inhibitor 1A 1.9E-03 0.403 0.769
CDKN1B P46527 cyclin dependent kinase inhibitor 1B 0.62 0.409 0.769
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CDKN2B P42772 cyclin dependent kinase inhibitor 2B 7.3E-03 0.417 0.769
CDKN2C P42773 cyclin dependent kinase inhibitor 2C 0.40 0.527 0.654
CEL P19835 carboxyl ester lipase 1.5E-06 0.514 0.808
CMA1 P23946 chymase 1 Enzyme 7.6E-09 0.514 0.692
DPP4 P27487 dipeptidyl peptidase 4 Enzyme 7.3E-09 0.420 0.808
EMP1 P54849 epithelial membrane protein 1 Cellular structure 0.50 0.560 0.769
FGF21 Q9NSA1 fibroblast growth factor 21 Signaling 2.9E-02 0.485 0.769
FOXA2 Q9Y261 forkhead box A2 Transcription factor 0.74 0.528 0.769
GCG P01275 glucagon 3.5E-02 0.431 0.885
GCK P35557 glucokinase Kinase 0.63 0.523 0.808
GLP1R P43220 glucagon like peptide 1 receptor G-protein coupled receptor 0.29 0.471 0.846
GLUD1 P00367 glutamate dehydrogenase 1 Enzyme 7.0E-03 0.584 0.731
HADH Q16836 hydroxyacyl-CoA dehydrogenase 6.6E-05 0.650 0.538
HNF1A P20823 HNF1 homeobox A Nucleic acid binding 0.96 0.478 0.846
HNF4A P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 0.15 0.461 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
INS P01308 insulin 0.30 0.445 0.923
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615