| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| BMP1 |
bone morphogenetic protein 1 |
23 |
11 |
12 |
| COL1A1 |
collagen, type I, alpha 1 |
2007 |
1036 |
1986 |
| COL1A2 |
collagen, type I, alpha 2 |
1054 |
604 |
1036 |
| CREB3L1 |
cAMP responsive element binding protein 3-like 1 |
8 |
4 |
4 |
| CRTAP |
cartilage associated protein |
59 |
32 |
29 |
| FAM46A |
family with sequence similarity 46 member A |
6 |
3 |
3 |
| FKBP10 |
FK506 binding protein 10, 65 kDa |
125 |
39 |
64 |
| IFITM5 |
interferon induced transmembrane protein 5 |
46 |
2 |
46 |
| P3H1 |
prolyl 3-hydroxylase 1 |
181 |
69 |
99 |
| P4HB |
prolyl 4-hydroxylase, beta polypeptide |
5 |
2 |
5 |
| PLOD2 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 |
26 |
10 |
13 |
| PLS3 |
plastin 3 |
11 |
11 |
11 |
| PPIB |
peptidylprolyl isomerase B (cyclophilin B) |
28 |
17 |
16 |
| SEC24D |
SEC24 family member D |
8 |
7 |
4 |
| SERPINF1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
85 |
38 |
50 |
| SERPINH1 |
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) |
12 |
9 |
9 |
| SP7 |
Sp7 transcription factor |
4 |
2 |
2 |
| SPARC |
secreted protein, acidic, cysteine-rich (osteonectin) |
4 |
2 |
2 |
| TMEM38B |
transmembrane protein 38B |
28 |
6 |
14 |
| WNT1 |
wingless-type MMTV integration site family, member 1 |
73 |
36 |
39 |
| |
Total of 20 gene entries |
3793 |
1940 |
3426 |
