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UBE3A

ubiquitin protein ligase E3A

gene with protein productOMIM: 6016235 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Роль в фенотипе4
15q11q13 microduplication syndromeORPHA:238446
→
Angelman syndrome due to imprinting defect in 15q11-q13ORPHA:411515
→
Angelman syndrome due to paternal uniparental disomy of chromosome 15ORPHA:98795
→
Angelman syndrome due to maternal 15q11q13 deletionORPHA:98794
→
Disease-causing germline mutation(s) (loss of function) in1
Angelman syndrome due to a point mutationORPHA:411511
→
Данные: Orphadata (CC-BY-4.0)