Gene: TBX19 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GeneticVariation disease BEFREE Herein, we report a patient with IAD due to a novel TBX19 gene mutation, who is also of tall stature. 30747411 2019
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 Biomarker disease BEFREE In conclusion, TBX19 gene analysis must be performed if adrenal insufficiency is associated with isolated ACTH deficiency. 29858850 2018
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GeneticVariation disease BEFREE However, we found a TPIT mutation in 65% of patients with neonatal-onset complete IAD. 22170728 2012
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 Biomarker disease GENOMICS_ENGLAND However, we found a TPIT mutation in 65% of patients with neonatal-onset complete IAD. 22170728 2012
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GeneticVariation disease BEFREE The methionine 86 arginine (M86R) TPIT mutation was recently identified in compound heterozygosity with the 782delA frame-shift mutation in two siblings with early-onset IAD. 17652218 2007
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 Biomarker disease CTD_human Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene. 16390921 2006
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GeneticVariation disease BEFREE We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). 15613420 2005
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GermlineCausalMutation disease ORPHANET We compared the clinical and biological phenotype of the 17 IAD patients carrying a TPIT mutation with the 10 IAD patients with normal TPIT-coding sequences. 15613420 2005
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GeneticVariation disease BEFREE Here we report the screening of the TPIT gene in seven patients with IAD, four of whom had neonatal onset. 15476446 2004
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GermlineCausalMutation disease ORPHANET Here we report the screening of the TPIT gene in seven patients with IAD, four of whom had neonatal onset. 15476446 2004
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 Biomarker disease GENOMICS_ENGLAND We demonstrated that human TPIT gene mutations cause a neonatal onset form of IAD (8/11), but not juvenile forms of this deficiency (0/6). 15525497 2004
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 GeneticVariation disease UNIPROT A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 11290323 2001
Entrez Id: 9095
Gene Symbol: TBX19
TBX19 		0.760 CausalMutation disease CLINVAR