Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846 20 116
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 20 17
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 8 16
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 3 7
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808 16 53
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 40 115
CUL3 Q13618 cullin 3 1.00 0.592 0.654 7 17
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808 5 6
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
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
DOCK1 Q14185 dedicator of cytokinesis 1 6.8E-03 0.641 0.577 2 1
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769 3 14
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769 2 14
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423 23 13
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846 14 22
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
DNAH5 Q8TE73 dynein axonemal heavy chain 5 Enzyme 4.9E-64 0.590 0.692 9 128
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462 26 23
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