Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
RHOBTB2 Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 1.3E-02 0.631 0.615
CLUAP1 Q96AJ1 clusterin associated protein 1 4.2E-04 0.805 0.231