Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.260 | Biomarker | disease | BEFREE | These findings indicate the important role of decorin DS in the extracellular matrix and a novel pathomechanism in EDS. | 20533528 | 2010 | ||||
|
0.260 | GeneticVariation | disease | BEFREE | Glycan profiling of a defect in decorin glycosylation in equine systemic proteoglycan accumulation, a potential model of progeroid form of Ehlers-Danlos syndrome. | 20599673 | 2010 | ||||
|
0.260 | GeneticVariation | disease | BEFREE | Compound heterozygous mutations in the B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a single patient affected with the progeroid form of EDS. | 16583246 | 2006 | ||||
|
0.260 | AlteredExpression | disease | LHGDN | Compound heterozygous mutations in the B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a single patient affected with the progeroid form of EDS. | 16583246 | 2006 | ||||
|
0.260 | GeneticVariation | disease | BEFREE | Thus, the beta4GalT-7 mutations directly affect the molecular phenotype of decorin observed in a patient with the progeroid form of Ehlers-Danlos syndrome, which may be a major mechanistic cause for the skin and wound healing defects observed in this patient. | 15859521 | 2005 | ||||
|
0.260 | GeneticVariation | disease | BEFREE | We excluded the COL1A1, COL1A2, and DCN gene as major candidate genes for classic EDS, since no causal mutation in these genes was found in a number of patients who tested negative for COL5A1 and COL5A2. | 15580559 | 2005 | ||||
|
0.260 | GeneticVariation | disease | BEFREE | Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. | 11532373 | 2001 | ||||
|
0.260 | Biomarker | disease | MGD |