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
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
TUBB6 Q9BUF5 tubulin beta 6 class V Cellular structure 1.7E-04 0.686 0.462
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
PKD1 P98161 polycystin 1, transient receptor potential channel interacting 1.00 0.493 0.769
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
SH2B3 Q9UQQ2 SH2B adaptor protein 3 1.0E-04 0.527 0.692
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
PKD2 Q13563 polycystin 2, transient receptor potential cation channel Ion channel 1.7E-04 0.552 0.731
CLDN19 Q8N6F1 claudin 19 Cell-cell junction 5.0E-03 0.659 0.423
CLCN2 P51788 chloride voltage-gated channel 2 Ion channel 5.5E-12 0.626 0.462
COL4A4 P53420 collagen type IV alpha 4 chain 6.7E-16 0.644 0.500
F12 P00748 coagulation factor XII Enzyme 8.3E-08 0.612 0.577
GRK6 P43250 G protein-coupled receptor kinase 6 Kinase 4.9E-04 0.670 0.654
CACNA1H O95180 calcium voltage-gated channel subunit alpha1 H Ion channel 4.8E-10 0.628 0.423
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
FAM131A Q6UXB0 family with sequence similarity 131 member A 6.7E-03 0.861 0.115