Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
DARS1 P14868 aspartyl-tRNA synthetase 1 Enzyme 8.5E-06 0.711 0.500
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808