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TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

gene with protein productOMIM: 6051012 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in1
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutationORPHA:664401
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Роль в фенотипе1
6q25.1 microdeletion syndromeORPHA:664404
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Данные: Orphadata (CC-BY-4.0)