Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.010 GeneticVariation disease BEFREE Marfan syndrome was found in 61 patients, Loeys-Dietz in 10, Acta 2 mutations in 4, aortitis in 2, and Ehlers-Danlos syndrome in 1. 29611032 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker disease BEFREE All patients show signs of Ehlers-Danlos syndrome (EDS): soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix (ECM) of fibronectin (FN) and of actin microfilaments in cultured skin fibroblasts. 15054833 2004
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 Biomarker disease BEFREE ADAMTS2, like COL5A1, has been linked to Ehlers-Danlos syndrome. 23491141 2013
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 GeneticVariation disease BEFREE Mutations in ADAMTS2, a procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) in humans. 16556917 2006
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 GeneticVariation disease BEFREE Biallelic ADAMTS2 mutations have caused a type of Ehlers Danlos syndrome known as dermatosparaxis in other species. 31294848 2019
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 GeneticVariation disease BEFREE In the first case, a homozygous nonsense mutation in ADAMTS2 (substitution of a codon for tryptophan by a stopcodon) causes type VIIC Ehlers-Danlos syndrome (EDS) with multiple tooth agenesis and focal dysplastic dentin defects. 17118335 2007
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 GeneticVariation disease BEFREE The metalloproteinase ADAMTS-2 has procollagen I N-proteinase activity capable of cleaving procollagens I and II N-propeptides in vitro, whereas mutations in the ADAMTS-2 gene in dermatosparaxis and Ehlers-Danlos syndrome VIIC show this enzyme to be responsible in vivo for most biosynthetic processing of procollagen I N-propeptides in skin. 12646579 2003
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 GeneticVariation disease BEFREE In this study, we analyzed the ADAMTS2 cDNA sequences from five patients displaying clinical and/or biochemical features consistent with a diagnosis of either typical or potentially mild form of EDS type VIIC. 15373769 2004
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 Biomarker disease BEFREE Null mutations in procollagen I N-propeptidase (ADAMTS-2) cause dermatosparaxis in cattle and the Ehlers-Danlos syndrome (dermatosparactic type) in humans by preventing proteolytic excision of the N-propeptide of procollagen I. 11408482 2001
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 AlteredExpression disease BEFREE The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen. 26765342 2016
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.090 AlteredExpression disease BEFREE Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. 15389701 2004
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.040 Biomarker disease BEFREE Null mutations in procollagen I N-propeptidase (ADAMTS-2) cause dermatosparaxis in cattle and the Ehlers-Danlos syndrome (dermatosparactic type) in humans by preventing proteolytic excision of the N-propeptide of procollagen I. 11408482 2001
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.040 GeneticVariation disease BEFREE The metalloproteinase ADAMTS-2 has procollagen I N-proteinase activity capable of cleaving procollagens I and II N-propeptides in vitro, whereas mutations in the ADAMTS-2 gene in dermatosparaxis and Ehlers-Danlos syndrome VIIC show this enzyme to be responsible in vivo for most biosynthetic processing of procollagen I N-propeptides in skin. 12646579 2003
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.040 AlteredExpression disease BEFREE The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of types I, II, and III procollagen. 26765342 2016
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.040 GeneticVariation disease BEFREE Ehlers-Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by an extreme skin fragility resulting from mutations inactivating ADAMTS-2, an enzyme excising the aminopropeptide of procollagens type I, II, and III. 15373769 2004
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1
0.030 Biomarker disease BEFREE This report further expands the clinical, molecular and ultrastructural spectrum associated with AEBP1 defects and highlights the complex and variable phenotype associated with this new EDS variant. 30668708 2019
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1
0.030 GeneticVariation disease BEFREE These studies support the conclusion that bi-allelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype. 29606302 2018
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1
0.030 GeneticVariation disease BEFREE Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). 30548383 2019
Entrez Id: 367
Gene Symbol: AR
AR
0.010 Biomarker disease BEFREE IL1R2 hypomethylation and AR hypermethylation may constitute an important determinant of disease severity, whereas NPR2 hypomethylation and SP140 hypermethylation may provide a biomarker for vulnerability to EDS in OSA. 26888452 2016
Entrez Id: 1386
Gene Symbol: ATF2
ATF2
0.010 Biomarker disease BEFREE Consistently, the patients' fibroblasts displayed impaired JNK1- and c-Jun/ATF-2-dependent induction of key extracellular matrix (ECM) components and regulators, but not of EDS-causing gene products, in response to TGF-β. 31784499 2019
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
0.010 Biomarker disease BEFREE Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. 24478233 2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.010 GeneticVariation disease BEFREE Mutations in the genes encoding the major fibrillar collagen types I and III have been demonstrated in EDS types VII and IV, respectively, while mutations in the lysyl hydroxylase and ATP7A genes, with roles in collagen cross-linking, are responsible for EDS types VI and IX. 8673139 1996
Entrez Id: 8705
Gene Symbol: B3GALT4
B3GALT4
0.010 GeneticVariation disease BEFREE Inactivating mutations in the GALT-II gene (B3GALT6) associated with Ehlers-Danlos syndrome cause proteoglycan maturation defects similar to FAM20B deletion. 25331875 2014
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.350 GeneticVariation disease BEFREE Other mutations in B3GALT6 resulted in the classical SEMD-JL phenotype in seven Japanese families and in a syndrome which has been likened to a progeroid form of Ehlers-Danlos syndrome (EDS). 24766538 2015
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.350 GeneticVariation disease BEFREE Biallelic mutations in B3GALT6, encoding one of the linker region glycosyltransferases, are known to cause either spondyloepimetaphyseal dysplasia (SEMD) or a severe pleiotropic form of Ehlers-Danlos syndromes (EDS). 29931299 2018