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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FLG-AS1 FLG antisense RNA 1 0.700 0.538
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462