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KLHL7
kelch like family member 7
gene with protein product
OMIM: 611119
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Retinitis pigmentosa
ORPHA:791
→
KLHL7-related Bohring-Opitz-like syndrome
ORPHA:603689
→
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
ORPHA:603684
→
KLHL7-related Crisponi/cold-induced sweating-like syndrome
ORPHA:603694
→
Disease-causing germline mutation(s) (loss of function) in
1
Cold-induced sweating syndrome
ORPHA:157820
→
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Редкие заболевания
KLHL7
🧬
KLHL7
kelch like family member 7
gene with protein product
OMIM: 611119
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Retinitis pigmentosa
ORPHA:791
→
KLHL7-related Bohring-Opitz-like syndrome
ORPHA:603689
→
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
ORPHA:603684
→
KLHL7-related Crisponi/cold-induced sweating-like syndrome
ORPHA:603694
→
Disease-causing germline mutation(s) (loss of function) in
1
Cold-induced sweating syndrome
ORPHA:157820
→