Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
RNASEH2B Q5TBB1 ribonuclease H2 subunit B 3.3E-09 0.595 0.615
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
IRAK1BP1 Q5VVH5 interleukin 1 receptor associated kinase 1 binding protein 1 1.4E-06 0.780 0.346
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
GCH1 P30793 GTP cyclohydrolase 1 Enzyme 0.90 0.511 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846