Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
CFTR P13569 CF transmembrane conductance regulator Ion channel 2.2E-58 0.424 0.885
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.560 0.692
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.8E-03 0.612 0.769
PHKG2 P15735 phosphorylase kinase catalytic subunit gamma 2 Kinase 3.9E-03 0.674 0.538
LRRCC1 Q9C099 leucine rich repeat and coiled-coil centrosomal protein 1 7.2E-21 0.722 0.577
CYBA P13498 cytochrome b-245 alpha chain 8.9E-06 0.520 0.769
RHAG Q02094 Rh associated glycoprotein Transporter 1.0E-02 0.716 0.346
GPC3 P51654 glypican 3 1.00 0.466 0.808
UNC13D Q70J99 unc-13 homolog D 1.1E-18 0.659 0.500
MAGT1 Q9H0U3 magnesium transporter 1 Transporter 0.96 0.548 0.769
GALT P07902 galactose-1-phosphate uridylyltransferase Enzyme 2.1E-06 0.612 0.654