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TBX1

T-box transcription factor 1

gene with protein productOMIM: 6020546 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4
22q11.2 deletion syndromeORPHA:567
→
Common arterial trunk with pulmonary dominance and interrupted aortic archORPHA:665058
→
Common arterial trunk with aortic dominanceORPHA:665044
→
Combined immunodeficiency due to TBX1 deficiencyORPHA:685017
→
Роль в фенотипе2
22q11.2 deletion syndromeORPHA:567
→
22q11.2 duplication syndromeORPHA:1727
→
Ген-кандидат1
Tetralogy of FallotORPHA:3303
→
Данные: Orphadata (CC-BY-4.0)