Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PIK3C2A O00443 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha Kinase 1.0E-02 0.633 0.692 1 1
POLR2E P19388 RNA polymerase II subunit E Enzyme 7.2E-09 0.736 0.192 1 1
ZNF446 Q9NWS9 zinc finger protein 446 5.7E-08 1 1
PSMG2 Q969U7 proteasome assembly chaperone 2 2.4E-07 0.839 0.115 1 1
PSMD11 O00231 proteasome 26S subunit, non-ATPase 11 1.00 0.839 0.269 1 1
PYGB P11216 glycogen phosphorylase B Enzyme 1.4E-14 0.792 0.308 1 1
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654 1 1
CEP76 Q8TAP6 centrosomal protein 76 4.5E-09 1 1
SRPX P78539 sushi repeat containing protein X-linked 3.1E-03 0.653 0.577 1 1
SMARCA5 O60264 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 Enzyme 1.00 0.670 0.500 1 1
RUNX1T1 Q06455 RUNX1 partner transcriptional co-repressor 1 Transcription factor 0.98 0.530 0.808 1 1
FGF18 O76093 fibroblast growth factor 18 Signaling 0.39 0.647 0.577 1 1
CHD1L Q86WJ1 chromodomain helicase DNA binding protein 1 like 1.0E-36 0.631 0.577 1 1
ZBED4 O75132 zinc finger BED-type containing 4 0.51 0.890 0.115 1 1
DENND4B O75064 DENN domain containing 4B 0.99 0.931 0.077 1 1
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577 19 2
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423 19 2
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577 19 2
TYW1 Q9NV66 tRNA-yW synthesizing protein 1 homolog Enzyme 2.0E-10 0.890 5 2
POLR3GL Q9BT43 RNA polymerase III subunit G like Enzyme 2.3E-05 0.839 0.231 4 2
INHA P05111 inhibin subunit alpha Signaling 6.5E-03 0.578 0.615 2 2
ZFHX3 Q15911 Q6ZP98 zinc finger homeobox 3 0.45 0.621 0.654 2 2