TNXA, tenascin XA (pseudogene), 7146

N. diseases: 10; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.020 GeneticVariation disease BEFREE The contiguous gene deletion syndrome (CAH-X) was described in a subset (7%) of congenital adrenal hyperplasia (CAH) patients with a TNXA/TNXB chimera, resulting in deletions of CYP21A2, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). 26075496 2015
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.020 Biomarker disease BEFREE The contiguous gene deletion syndrome (CAH-X) was described in a subset (7%) of congenital adrenal hyperplasia (CAH) patients with a TNXA/TNXB chimera, resulting in deletions of CYP21A2, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). 26075496 2015
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.020 GeneticVariation disease BEFREE In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH. 15639189 2005
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		0.020 Biomarker disease BEFREE In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH. 15639189 2005
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 Biomarker phenotype BEFREE TNX-deficient patients reported increased sensory and motor GI symptoms including abdominal pain and constipation compared to controls. 29917237 2018
CUI: C0009806
Disease: Constipation
Constipation 		0.010 Biomarker phenotype BEFREE TNX-deficient patients reported increased sensory and motor GI symptoms including abdominal pain and constipation compared to controls. 29917237 2018
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		0.010 Biomarker disease BEFREE TNX-deficient mice had internal rectal prolapse and a loss of distal colonic contractility which could be rescued by prokinetic drug treatment. 29917237 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Tnx gene expression contributes to promoting TGFβ1 mRNA expression in ocular fibroblasts and VEGF-A in macrophages, macrophage invasion, up-regulation of VEGF-A expression and neovascularization in an injured corneal stroma. 29160014 2018
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		0.010 Biomarker disease BEFREE In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH. 15639189 2005
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 Biomarker disease BEFREE In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH. 15639189 2005
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 Biomarker disease BEFREE In addition, the haplotype of CYP21 with chimera CYP21P/CYP21 causes 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH), while chimera TNXA/TNXB is associated with Ehlers-Danols syndrome as well as CAH. 15639189 2005
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		0.010 GeneticVariation group BEFREE Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections. 10439316 1999