Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
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
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
CAPN1 P07384 calpain 1 Enzyme 5.9E-10 0.539 0.808
SPAST Q9UBP0 spastin Cellular structure 1.00 0.579 0.577
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769