Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 Biomarker disease MGD
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 Biomarker disease CTD_human
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.350 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1634
Gene Symbol: DCN
DCN
0.260 Biomarker disease MGD
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
0.250 Biomarker disease MGD
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
0.100 GeneticVariation disease BEFREE <i>TNXB</i>-related classical-like Ehlers-Danlos syndrome (<i>TNXB</i>-clEDS) is an ultrarare type of Ehlers-Danlos syndrome due to biallelic <i>null</i> variants in <i>TNXB</i>, encoding tenascin-X. 31775249 2019
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.100 Biomarker disease BEFREE EDS cells with COL5A1 haplo-insufficiency deposited less than one-half of hydroxyproline as collagen compared to control fibroblasts, though total collagen synthesis rates are near-normal because type V collagen represents a small fraction of collagen synthesized. 15095409 2004
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: 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: 120892
Gene Symbol: LRRK2
LRRK2
0.010 GeneticVariation disease BEFREE EDS and RBD were always reported to start after the onset of parkinsonism in LRRK2-PD. 26177462 2015
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14
0.060 GeneticVariation disease BEFREE Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. 27905128 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro alpha 2 chain of type I procollagen. 3800425 1987
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 Biomarker disease BEFREE Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). 9295084 1997
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE Ehlers-Danlos syndrome (EDS) type IV results from mutations in the COL3A1 gene, which encodes the constituent chains of type III procollagen. 9399899 1997
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. 9841712 1999
Entrez Id: 50509
Gene Symbol: COL5A3
COL5A3
0.010 Biomarker disease BEFREE COL5A3 is mapped to 19p13.2 near a polymorphic marker that should be useful in analyzing linkage with EDS and other disease phenotypes. 10722718 2000
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.100 GeneticVariation disease BEFREE COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. 11278977 2001
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
0.100 Biomarker disease BEFREE Tenascin-X was absent from the serum of the 5 remaining patients with Ehlers-Danlos syndrome, who were unrelated. 11642233 2001
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
0.100 Biomarker disease BEFREE Tenascin-X is important for the proper deposition of collagen fibers in dermis and patients with a tenascin-X deficiency suffer from Ehlers Danlos syndrome. 15094123 2004
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.040 GeneticVariation disease BEFREE Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422 2005
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
0.100 GeneticVariation disease BEFREE Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. 15793839 2005
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2
0.040 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
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
0.100 Biomarker disease BEFREE Tenascin-X represents the first EDS susceptibility gene that does not code for a fibrillar collagen or collagen-processing enzyme. 20649799 2010
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.070 Biomarker disease BEFREE Fibronectin receptor on polymorphonuclear leukocytes in families of Ehlers-Danlos syndrome and other hereditary connective tissue diseases. 2144868 1990