Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
UBR4 Q5T4S7 ubiquitin protein ligase E3 component n-recognin 4 1.00 0.760 0.269 1 5
USP45 Q70EL2 ubiquitin specific peptidase 45 Enzyme 1.4E-17 0.792 0.154 1 4
CLGN O14967 calmegin Chaperone 1.3E-11 0.839 0.115 1 3
PLXNA3 P51805 plexin A3 5.5E-02 0.670 0.769 1 3
MTA3 Q9BTC8 metastasis associated 1 family member 3 Nucleic acid binding 3.4E-02 0.670 0.462 1 3
MYH7B A7E2Y1 myosin heavy chain 7B 4.3E-46 0.792 0.308 1 3
HKDC1 Q2TB90 hexokinase domain containing 1 Kinase 1.6E-14 0.743 0.269 1 3
PTPRU Q92729 protein tyrosine phosphatase receptor type U Enzyme 0.39 0.581 0.654 1 2
ZFC3H1 O60293 zinc finger C3H1-type containing 1.00 0.839 0.115 1 2
RASA3 Q14644 RAS p21 protein activator 3 Enzyme modulator 1.9E-10 0.769 0.308 1 2
SLC7A8 Q9UHI5 solute carrier family 7 member 8 Transporter 5.1E-08 0.743 0.423 1 2
GPR78 Q96P69 G protein-coupled receptor 78 G-protein coupled receptor 2.7E-06 0.722 0.192 1 2
KCND1 Q9NSA2 potassium voltage-gated channel subfamily D member 1 Ion channel 0.26 1 2
PHF20 Q9BVI0 PHD finger protein 20 1.00 0.650 0.615 1 2
RNF31 Q96EP0 ring finger protein 31 1.00 0.736 0.346 1 2
ADGRB3 O60242 adhesion G protein-coupled receptor B3 G-protein coupled receptor 1.00 0.736 0.192 1 2
FBRS Q9HAH7 fibrosin 1.00 0.653 0.654 1 2
EDEM3 Q9BZQ6 ER degradation enhancing alpha-mannosidase like protein 3 2.5E-03 0.931 0.154 1 2
OBSCN Q5VST9 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Kinase 1.9E-164 0.736 0.538 1 2
HOOK3 Q86VS8 hook microtubule tethering protein 3 Enzyme modulator 1.00 0.780 0.308 1 2
CPZ Q66K79 carboxypeptidase Z 8.8E-36 0.839 0.154 1 2
DNAH17 Q9UFH2 dynein axonemal heavy chain 17 Enzyme 2.0E-63 0.839 0.154 1 2
MED24 O75448 mediator complex subunit 24 3.3E-11 0.931 0.192 1 2
LINC00624 long intergenic non-protein coding RNA 624 1.000 0.077 1 1