Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 3 7
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269 3 14
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692 10 83
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808 16 53
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769 5 9
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
CUL3 Q13618 cullin 3 1.00 0.592 0.654 7 17
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769 16 43
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 34 84
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423 23 13
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769 3 14
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692 9 128
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
DOCK1 Q14185 dedicator of cytokinesis 1 6.8E-03 0.641 0.577 2 1
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769 2 14
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769 2 19
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462 26 23
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41