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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
ENG P17813 endoglin 1.00 0.446 0.846
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
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808
CREB3L1 Q96BA8 cAMP responsive element binding protein 3 like 1 0.98 0.601 0.615