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COQ7
coenzyme Q7, hydroxylase
gene with protein product
OMIM: 601683
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
ORPHA:319678
→
Герминативная мутация (причина)
1
COQ7-related distal hereditary motor neuropathy
ORPHA:658778
→
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Редкие заболевания
COQ7
🧬
COQ7
coenzyme Q7, hydroxylase
gene with protein product
OMIM: 601683
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
ORPHA:319678
→
Герминативная мутация (причина)
1
COQ7-related distal hereditary motor neuropathy
ORPHA:658778
→