Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 33 264
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 32 164
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 32 7
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 31 68
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923 30 24
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808 30 12
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 29 36
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885 29 31
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538 28 7
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 27 294
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808 27 14
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462 26 23
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 26 6
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423 24 13
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 23 125
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538 23 9
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500 23 9
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846 22 53
TRNL1 tRNA 0.534 0.731 22 11
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846 21 14