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
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
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
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
PAX6 P26367 paired box 6 1.00 0.450 0.769
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731