Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385 17 4
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385 10 2
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423 45 9
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423 34 5
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423 33 4
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423 18 23
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462 63 15
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462 8 14
ZNF462 Q96JM2 zinc finger protein 462 Transcription factor 1.00 0.711 0.462 4 3
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 59 77
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 54 4
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577 28 25
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615 39 49
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654 47 11
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731 31 13
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59