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SLC25A4
solute carrier family 25 member 4
gene with protein product
OMIM: 103220
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
ORPHA:1369
→
Герминативная мутация (причина)
1
Autosomal dominant progressive external ophthalmoplegia
ORPHA:254892
→
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Редкие заболевания
SLC25A4
🧬
SLC25A4
solute carrier family 25 member 4
gene with protein product
OMIM: 103220
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
ORPHA:1369
→
Герминативная мутация (причина)
1
Autosomal dominant progressive external ophthalmoplegia
ORPHA:254892
→