TNXB, tenascin XB, 7148

N. diseases: 127; N. variants: 79
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. 27582382 2017
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. 27582382 2017
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 GeneticVariation disease UNIPROT Compound heterozygous mutations of the TNXB gene cause primary myopathy. 23768946 2013
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 GeneticVariation disease UNIPROT Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. 15733269 2005
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 GermlineCausalMutation disease ORPHANET A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 11642233 2001
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 GeneticVariation disease UNIPROT A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 11642233 2001
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 AlteredExpression disease BEFREE Absence of TNX mRNA and protein in the proband, mapping of the TNX gene and HLA typing of this family suggest recessive inheritance of TNX deficiency and connective-tissue disease. 9288108 1997
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome caused by tenascin-X deficiency 		0.610 Biomarker disease CTD_human
CUI: C4014831
Disease: VESICOURETERAL REFLUX 8
VESICOURETERAL REFLUX 8 		0.600 GeneticVariation disease UNIPROT TNXB mutations can cause vesicoureteral reflux. 23620400 2013
CUI: C4014831
Disease: VESICOURETERAL REFLUX 8
VESICOURETERAL REFLUX 8 		0.600 Biomarker disease GENOMICS_ENGLAND TNXB mutations can cause vesicoureteral reflux. 23620400 2013
CUI: C4014831
Disease: VESICOURETERAL REFLUX 8
VESICOURETERAL REFLUX 8 		0.600 CausalMutation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease PSYGENET Although these associations became insignificant after Bonferroni correction, the findings might provide support for the association of the TNXB locus or its adjacent region of the NOTCH4 locus with schizophrenia. 17192952 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease BEFREE Although these associations became insignificant after Bonferroni correction, the findings might provide support for the association of the TNXB locus or its adjacent region of the NOTCH4 locus with schizophrenia. 17192952 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease LHGDN Although these associations became insignificant after Bonferroni correction, the findings might provide support for the association of the TNXB locus or its adjacent region of the NOTCH4 locus with schizophrenia. 17192952 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease PSYGENET TNXB locus may be a candidate gene predisposing to schizophrenia. 14755442 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease BEFREE Because the TNXB gene is less than 100 kb away from the NOTCH4 locus that was also reported to be associated with schizophrenia, allelic and locus heterogeneity could be possible reasons for the failure to replicate the TNXB finding. 14729256 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease PSYGENET Because the TNXB gene is less than 100 kb away from the NOTCH4 locus that was also reported to be associated with schizophrenia, allelic and locus heterogeneity could be possible reasons for the failure to replicate the TNXB finding. 14729256 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease BEFREE TNXB locus may be a candidate gene predisposing to schizophrenia. 14755442 2004
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.410 GeneticVariation disease BEFREE TNXB mutations can cause vesicoureteral reflux. 23620400 2013
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.410 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.410 Biomarker disease CTD_human
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1 		0.310 GeneticVariation disease BEFREE Taken together, these results suggest that mutations in TNXB can cause hereditary VUR. 23620400 2013