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SLC4A1
solute carrier family 4 member 1 (Diego blood group)
gene with protein product
OMIM: 109270
6 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
6
Hereditary spherocytosis
ORPHA:822
→
Dehydrated hereditary stomatocytosis
ORPHA:3202
→
Hereditary cryohydrocytosis with normal stomatin
ORPHA:398088
→
Distal renal tubular acidosis with anemia
ORPHA:93610
→
Autosomal dominant distal renal tubular acidosis
ORPHA:93608
→
Southeast Asian ovalocytosis
ORPHA:98868
→
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Редкие заболевания
SLC4A1
🧬
SLC4A1
solute carrier family 4 member 1 (Diego blood group)
gene with protein product
OMIM: 109270
6 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
6
Hereditary spherocytosis
ORPHA:822
→
Dehydrated hereditary stomatocytosis
ORPHA:3202
→
Hereditary cryohydrocytosis with normal stomatin
ORPHA:398088
→
Distal renal tubular acidosis with anemia
ORPHA:93610
→
Autosomal dominant distal renal tubular acidosis
ORPHA:93608
→
Southeast Asian ovalocytosis
ORPHA:98868
→