Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615
TTC8 Q8TAM2 tetratricopeptide repeat domain 8 1.2E-06 0.631 0.500
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538
NBEA Q8NFP9 neurobeachin 1.00 0.760 0.538
ZNF711 Q9Y462 zinc finger protein 711 0.98 0.691 0.423
FIGNL1 Q6PIW4 fidgetin like 1 Cellular structure 1.2E-04 0.805 0.385
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885