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SLC5A7
solute carrier family 5 member 7
gene with protein product
OMIM: 608761
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Distal hereditary motor neuropathy type 7
ORPHA:139589
→
Disease-causing germline mutation(s) (gain of function) in
1
Presynaptic congenital myasthenic syndromes
ORPHA:98914
→
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SLC5A7
🧬
SLC5A7
solute carrier family 5 member 7
gene with protein product
OMIM: 608761
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Distal hereditary motor neuropathy type 7
ORPHA:139589
→
Disease-causing germline mutation(s) (gain of function) in
1
Presynaptic congenital myasthenic syndromes
ORPHA:98914
→