Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692 48 32
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692 44 42
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692 41 9
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885 35 28