Table 2.
Disease | Gene Name | Gene ID | Reference SNP | Location | Variation Type | Alleles | Associated Signaling Factors | Refs. | Other Conditions Associated with Allele |
---|---|---|---|---|---|---|---|---|---|
Ossification of the posterior longitudinal ligament | TGF-β1 | 7040 | rs1800470 | 19p:41353016 | SNV | G > A, C | TGF-β1 | [7,8] | Cystic fibrosis [9] |
BMP2 | 650 | rs1555785715 | 20p:6778468 | SNV | G > T | BMP2 | [8] | Facial dysmorphism [10] | |
Hypertrophy and ossification of the ligamentum flavum | UK | UK | UK | UK | UK | UK | Hedgehog and BMP | [11] | UK |
TGF-β1 | 7040 | UK | UK | UK | UK | TGF-β1 | [12] | UK | |
FJ osteoarthritis | TGF-β1 | 7040 | UK | UK | UK | UK | TGF-β1 | [13] | UK |
FOXC1 | 2296 | UK | UK | UK | UK | Wnt/β-catenin | [14] | UK | |
IVD herniation | COL1A1 | 1277 | rs1800012 | 17p:50200388 | SNV | C > A | COL1 | [15] | Arthrochalasia, Type 1 [16] |
COL1A2 | 1278 | UK | UK | UK | UK | COL1 | [17] | Ehlers-Danlos syndrome [18] | |
Achondroplasia | FGFR3 | 2261 | rs28931614 | 4p:1804392 | SNV | G > A, C | FGFR3 | [19] | Decreased bone elongation [19] |
FGFR3 | 2261 | rs267606809 | 4p:1804384 | SNV | T > C, G | FGFR3 | [20] | Upper airway obstruction [20] | |
FGFR3 | 2261 | rs121913114 | 4p:1801930 | SNV | A > G, T | FGFR3 | [20] | Pulmonary hypoplasia [20] | |
FGFR3 | 2261 | rs75790268 | 4p:1804377 | SNV | G > T | FGFR3 | [20] | Rhizomelia [20] |