Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
GNAQ P50148 G protein subunit alpha q Enzyme modulator 0.98 0.516 0.808
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538