Table 1:
Candidate genes.
| Gene | Gene coordinates chromosome:start–end (bp)a | Genotyped and imputed variants (number) | Associated disorder |
|---|---|---|---|
| XPR1 | Chr1:180 632 022–180 890 263 | 27 356 | Distal renal tubular acidosis Tubular phosphate handling |
| ATP6V1B1 | Chr2:70 934 905–70 966 388 | 3321 | Infantile hypercalcaemia Distal renal tubular acidosis (OMIM 267 300) |
| SLC34A1 | Chr5:177 379 263–177 398 841 | 2490 | Infantile hypercalcaemia Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (OMIM 616 963 and 612 286) |
| ATP6V0A4 | Chr7:138 706 308–138 799 538 | 9819 | Hereditary hypophosphatemic rickets with hypercalciuria/Fanconi syndrome Distal renal tubular acidosis (OMIM 602 722) |
| SLC20A2 | Chr8:42 416 477–42 541 922 | 12 855 | Hereditary hypophosphatemic rickets with hypercalciuria/idiopathic infantile hypercalciuria/infantile hypercalcaemia Tubular phosphate handling |
| SLC34A3 | Chr9:137 230 762–137 236 550 | 1459 | Hereditary hypophosphatemic rickets with hypercalciuria (OMIM 241 530) |
| FGF23 | Chr12:4 368 228–4 379 698 | 1381 | Hereditary hypophosphatemic rickets with hypercalciuria/hereditary hypophosphatemia and nephrocalcinosis Hypophosphatemic rickets, autosomal dominant (OMIM 193 100) |
| SLC4A1 | Chr17:44 248 394–44 268 140 | 2343 | Hereditary hypophosphatemic rickets with hypercalciuria Distal renal tubular acidosis (OMIM 179 800 and 611 590) |
| SLC9A3R1 | Chr17:74 748 634–74 769 351 | 2722 | Infantile hypercalcaemia Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (OMIM 612 287) |
| CYP24A1 | Chr20:54 153 484–54 173 979 | 2478 | Infantile hypercalcaemia, 1 (OMIM 143 880) |
aGene coordinates according to GRCh38 version of human genome reference sequence.