Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		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
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.610 GeneticVariation disease UNIPROT Compound heterozygous mutations of the TNXB gene cause primary myopathy. 23768946 2013
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.610 GeneticVariation disease UNIPROT Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. 15733269 2005
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.610 GermlineCausalMutation disease ORPHANET A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 11642233 2001
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.610 GeneticVariation disease UNIPROT A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 11642233 2001
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		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
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.610 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7148
Gene Symbol: TNXB
TNXB 		0.610 Biomarker disease CTD_human
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		0.010 GeneticVariation disease BEFREE CYP21A2 mutations cause CAH, and TNX deficiency has been identified as a cause of hypermobility type Ehlers-Danlos syndrome (EDS). 19921645 2009