TBX19, T-box transcription factor 19, 9095

N. diseases: 35; N. variants: 10
Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.020 GeneticVariation phenotype BEFREE Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). 30747411 2019
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.020 Biomarker phenotype BEFREE In conclusion, TBX19 gene analysis must be performed if adrenal insufficiency is associated with isolated ACTH deficiency. 29858850 2018