Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654 1 1
CPZ Q66K79 carboxypeptidase Z 8.8E-36 0.839 0.154 1 2
CTSA P10619 cathepsin A Enzyme 5.9E-09 0.619 0.731 13 17
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769 19 14
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
CEP76 Q8TAP6 centrosomal protein 76 4.5E-09 1 1
CLIC4 Q9Y696 chloride intracellular channel 4 Ion channel 1.1E-03 0.628 0.423 1 1
CHD1L Q86WJ1 chromodomain helicase DNA binding protein 1 like 1.0E-36 0.631 0.577 1 1
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 38 68
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 32 7
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769 12 15
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500 23 9
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
DENND4B O75064 DENN domain containing 4B 0.99 0.931 0.077 1 1
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500 20 7
DPH1 Q9BZG8 diphthamide biosynthesis 1 8.0E-17 0.653 0.538 8 3
DPRX A6NFQ7 divergent-paired related homeobox 2.4E-06 1 1
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 50 138
DNAH17-AS1 DNAH17 antisense RNA 1 8.4E-02 0.931 0.077 1 1
DNAJC21 Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 2.1E-07 0.606 0.731 9 7
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
DNAH17 Q9UFH2 dynein axonemal heavy chain 17 Enzyme 2.0E-63 0.839 0.154 1 2