Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
EMC1-AS1 EMC1 antisense RNA 1 0.792 0.385
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
MLLT1 Q03111 MLLT1 super elongation complex subunit Nucleic acid binding 0.99 0.663 0.346