Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ADGRB3 O60242 adhesion G protein-coupled receptor B3 G-protein coupled receptor 1.00 0.736 0.192 1 2
MED24 O75448 mediator complex subunit 24 3.3E-11 0.931 0.192 1 2
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
POLR3GL Q9BT43 RNA polymerase III subunit G like Enzyme 2.3E-05 0.839 0.231 4 2
N4BP2L2 Q92802 NEDD4 binding protein 2 like 2 1.3E-09 0.780 0.231 1 1
VWCE Q96DN2 von Willebrand factor C and EGF domains 3.1E-12 0.751 0.231 1 1
USP24 Q9UPU5 ubiquitin specific peptidase 24 1.00 0.760 0.231 1 1
GABRE P78334 gamma-aminobutyric acid type A receptor subunit epsilon Ion channel 1.8E-04 0.839 0.231 1 1
PDZRN3 Q9UPQ7 PDZ domain containing ring finger 3 0.98 0.792 0.269 2 3
UBR4 Q5T4S7 ubiquitin protein ligase E3 component n-recognin 4 1.00 0.760 0.269 1 5
PSMD11 O00231 proteasome 26S subunit, non-ATPase 11 1.00 0.839 0.269 1 1
HKDC1 Q2TB90 hexokinase domain containing 1 Kinase 1.6E-14 0.743 0.269 1 3
KLC4 Q9NSK0 kinesin light chain 4 1.2E-03 0.743 0.308 21 7
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308 16 11
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
PTCHD1-AS PTCHD1 antisense RNA (head to head) 0.839 0.308 9 44
RASA3 Q14644 RAS p21 protein activator 3 Enzyme modulator 1.9E-10 0.769 0.308 1 2
MYH7B A7E2Y1 myosin heavy chain 7B 4.3E-46 0.792 0.308 1 3
PYGB P11216 glycogen phosphorylase B Enzyme 1.4E-14 0.792 0.308 1 1
HOOK3 Q86VS8 hook microtubule tethering protein 3 Enzyme modulator 1.00 0.780 0.308 1 2
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346 11 1
OSBP P22059 oxysterol binding protein 1.00 0.705 0.346 1 1
RNF31 Q96EP0 ring finger protein 31 1.00 0.736 0.346 1 2
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3