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
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808