Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
TRNL1 tRNA 0.534 0.731
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308