Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654 91 14
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 86 26
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
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
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731 43 1
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692 41 324
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 39 17
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
FLG-AS1 FLG antisense RNA 1 0.700 0.538 37 21
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 36 56
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846 36 19
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 34 63