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KLHL7

kelch like family member 7

gene with protein productOMIM: 6111195 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4
Retinitis pigmentosaORPHA:791
→
KLHL7-related Bohring-Opitz-like syndromeORPHA:603689
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KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndromeORPHA:603684
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KLHL7-related Crisponi/cold-induced sweating-like syndromeORPHA:603694
→
Disease-causing germline mutation(s) (loss of function) in1
Cold-induced sweating syndromeORPHA:157820
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Данные: Orphadata (CC-BY-4.0)