← Назад
🧬

SMC1A

structural maintenance of chromosomes 1A

gene with protein productOMIM: 3000404 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3
Cornelia de Lange syndromeORPHA:199
→
Atypical Rett syndromeORPHA:3095
→
Intellectual disability-small hands and feet-drug-resistant epilepsy syndromeORPHA:708203
→
Disease-causing germline mutation(s) (loss of function) in1
Semilobar holoprosencephalyORPHA:220386
→
Данные: Orphadata (CC-BY-4.0)