Disease: Delayed speech and language development
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
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808