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KLHL41
kelch like family member 41
gene with protein product
OMIM: 607701
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
4
Severe congenital nemaline myopathy
ORPHA:171430
→
Intermediate nemaline myopathy
ORPHA:171433
→
Typical nemaline myopathy
ORPHA:171436
→
Childhood-onset nemaline myopathy
ORPHA:171439
→
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Редкие заболевания
KLHL41
🧬
KLHL41
kelch like family member 41
gene with protein product
OMIM: 607701
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
4
Severe congenital nemaline myopathy
ORPHA:171430
→
Intermediate nemaline myopathy
ORPHA:171433
→
Typical nemaline myopathy
ORPHA:171436
→
Childhood-onset nemaline myopathy
ORPHA:171439
→