Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
DNAH7 Q8WXX0 dynein axonemal heavy chain 7 Enzyme 1.4E-71 0.769 0.346
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
ZRANB3 Q5FWF4 zinc finger RANBP2-type containing 3 4.2E-21 0.780 0.577
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
RPS6KC1 Q96S38 ribosomal protein S6 kinase C1 Kinase 1.3E-03 0.821 0.231
PDE6D O43924 phosphodiesterase 6D Enzyme 6.4E-03 0.623 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
TMEM47 Q9BQJ4 transmembrane protein 47 0.80 0.821 0.154
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423