Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
LMNA P02545 lamin A/C 1.00 0.384 0.885
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692
GCK P35557 glucokinase Kinase 0.63 0.523 0.808
HNF1A P20823 HNF1 homeobox A Nucleic acid binding 0.96 0.478 0.846
INS-IGF2 F8WCM5 INS-IGF2 readthrough 5.6E-02 0.633 0.500
HNF4A P41235 hepatocyte nuclear factor 4 alpha Nuclear receptor 0.15 0.461 0.808
PHKG2 P15735 phosphorylase kinase catalytic subunit gamma 2 Kinase 3.9E-03 0.674 0.538
INS P01308 insulin 0.30 0.445 0.923
MC4R P32245 melanocortin 4 receptor G-protein coupled receptor 9.2E-04 0.535 0.692