Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
ZNF462 Q96JM2 zinc finger protein 462 Transcription factor 1.00 0.711 0.462