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SLC34A1
solute carrier family 34 member 1
gene with protein product
OMIM: 182309
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
Hereditary hypophosphatemic rickets with hypercalciuria
ORPHA:157215
→
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244305
→
Disease-causing germline mutation(s) (loss of function) in
2
Primary Fanconi renotubular syndrome
ORPHA:3337
→
Autosomal recessive infantile hypercalcemia
ORPHA:300547
→
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Редкие заболевания
SLC34A1
🧬
SLC34A1
solute carrier family 34 member 1
gene with protein product
OMIM: 182309
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
2
Hereditary hypophosphatemic rickets with hypercalciuria
ORPHA:157215
→
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244305
→
Disease-causing germline mutation(s) (loss of function) in
2
Primary Fanconi renotubular syndrome
ORPHA:3337
→
Autosomal recessive infantile hypercalcemia
ORPHA:300547
→