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: 2335
Gene Symbol: FN1
FN1
0.070 Biomarker disease BEFREE A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function. 7382073 1980
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.020 GeneticVariation disease BEFREE We have used a high frequency site polymorphism within the human pro-alpha 1(II) collagen gene (COL2A1) in order to examine the segregation of this gene within a large pedigree with type II Ehlers-Danlos syndrome (EDS). 2992397 1985
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE Our results suggested cosegregation of the EDS type IV phenotype with a COL3A1 RFLP allele. 2875936 1986
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE The clinical features and progress of a child with the type VII form of Ehlers-Danlos syndrome due to a deletion in the pro alpha 1(I) of type I procollagen were studied. 3430546 1987
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: 4041
Gene Symbol: LRP5
LRP5
0.010 Biomarker disease BEFREE Striking similarities with established genetic disorders of collagen (like the osteogenesis imperfecta group and the Ehlers-Danlos syndrome) suggest, however, that the OPS could be a primary collagen disorder. 3174281 1988
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE Similar mutations in the gene (COL3A1) that encodes the chains of type III procollagen result in the EDS type IV phenotype. 2683783 1989
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE The data suggest that EDS type IV is often caused by heterozygosity for mutations at the COL3A1 locus, which affect the structure of type III procollagen. 2722184 1989
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. 2365710 1990
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
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.040 Biomarker disease BEFREE The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII. 2260589 1990
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE The proband is the fourth reported proband with Ehlers-Danlos syndrome VII with a single-base mutation that causes skipping of exon 6 in the splicing of RNA from either the COL1A1 gene or COL1A2 gene. 1990839 1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.600 GeneticVariation disease BEFREE We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait. 2049575 1991
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait. 2049575 1991
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
0.400 GeneticVariation disease BEFREE The proband is the fourth reported proband with Ehlers-Danlos syndrome VII with a single-base mutation that causes skipping of exon 6 in the splicing of RNA from either the COL1A1 gene or COL1A2 gene. 1990839 1991
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.400 GeneticVariation disease BEFREE We have used a number of restriction site dimorphisms, tightly linked to the structural genes of type I collagen (COL1A1 COL1A2) and type III collagen (COL3A1), to investigate the segregation of corresponding alleles in three pedigrees in which type II EDS was clearly inherited as a dominant trait. 2049575 1991
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.070 AlteredExpression disease BEFREE While in control fibroblasts about 70% of FN mRNA isoforms contain the EDA region (EDA+ FN mRNAs), in EDS fibroblasts this fraction is reduced up to about 30%. 1802404 1991
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.070 Biomarker disease BEFREE Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts. 1802403 1991
Entrez Id: 1896
Gene Symbol: EDA
EDA
0.010 Biomarker disease BEFREE This indicates that in the EDS fibroblasts analyzed a deregulation of the alternative splicing processes acting at the EDA region takes place. 1802404 1991