Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ST20-MTHFS ST20-MTHFS readthrough 7.6E-03 0.805 0.115
MTHFS P49914 methenyltetrahydrofolate synthetase Enzyme 2.6E-04 0.678 0.500