Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462 63 15
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423 45 9
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615 39 49
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423 33 4
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731 31 13
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 26 6
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846 21 38
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846 17 12
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385 17 4
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846 70 13
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577 54 4
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385 10 2
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35