Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385 10 2
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
ZNF462 Q96JM2 zinc finger protein 462 Transcription factor 1.00 0.711 0.462 4 3
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 54 4
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423 33 4
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385 17 4
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423 34 5
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 26 6
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423 45 9
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654 47 11
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846 17 12
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846 70 13
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731 31 13
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462 8 14
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462 63 15
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423 18 23
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846 9 24
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25