Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TYW1 Q9NV66 tRNA-yW synthesizing protein 1 homolog Enzyme 2.0E-10 0.890 5 2
WDR6 Q9NNW5 WD repeat domain 6 2.1E-09 1 1
H2AP O75409 H2A.P histone Nucleic acid binding 1 1
ITIH6 Q6UXX5 inter-alpha-trypsin inhibitor heavy chain family member 6 1.5E-24 1 1
KCND1 Q9NSA2 potassium voltage-gated channel subfamily D member 1 Ion channel 0.26 1 2
DPRX A6NFQ7 divergent-paired related homeobox 2.4E-06 1 1
ZNF446 Q9NWS9 zinc finger protein 446 5.7E-08 1 1
CEP76 Q8TAP6 centrosomal protein 76 4.5E-09 1 1
LINC00624 long intergenic non-protein coding RNA 624 1.000 0.077 1 1
DNAH17-AS1 DNAH17 antisense RNA 1 8.4E-02 0.931 0.077 1 1
DENND4B O75064 DENN domain containing 4B 0.99 0.931 0.077 1 1
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115 10 1
CLGN O14967 calmegin Chaperone 1.3E-11 0.839 0.115 1 3
USP51 Q70EK9 ubiquitin specific peptidase 51 Enzyme 0.13 0.861 0.115 1 1
ZFC3H1 O60293 zinc finger C3H1-type containing 1.00 0.839 0.115 1 2
PSMG2 Q969U7 proteasome assembly chaperone 2 2.4E-07 0.839 0.115 1 1
ZBED4 O75132 zinc finger BED-type containing 4 0.51 0.890 0.115 1 1
EDEM3 Q9BZQ6 ER degradation enhancing alpha-mannosidase like protein 3 2.5E-03 0.931 0.154 1 2
USP45 Q70EL2 ubiquitin specific peptidase 45 Enzyme 1.4E-17 0.792 0.154 1 4
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
RAB33B Q9H082 RAB33B, member RAS oncogene family 0.68 0.821 0.192 4 7
ANKS3 Q6ZW76 ankyrin repeat and sterile alpha motif domain containing 3 1.9E-07 0.821 0.192 1 1
GPR78 Q96P69 G protein-coupled receptor 78 G-protein coupled receptor 2.7E-06 0.722 0.192 1 2