Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FLG-AS1 FLG antisense RNA 1 0.700 0.538
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
DMD P11532 dystrophin 1.00 0.423 0.923
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577