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
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
BIVM-ERCC5 BIVM-ERCC5 readthrough 1.3E-15 0.736 0.308
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
CTSA P10619 cathepsin A Enzyme 5.9E-09 0.619 0.731
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577
DNAJC21 Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 2.1E-07 0.606 0.731