Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769