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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808