×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
CTD_human
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.
20635400
2010
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
MGD
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages.
16492673
2006
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
MGD
Type V collagen controls the initiation of collagen fibril assembly.
15383546
2004
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
GeneticVariation
disease
BEFREE
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I .
12145749
2002
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
GENOMICS_ENGLAND
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
9042913
1997
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
CTD_human
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
9042913
1997
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
BEFREE
The gene encoding collagen alpha1(V)(COL5A1 ) is linked to mixed Ehlers-Danlos syndrome type I /II.
8752669
1996
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
GeneticVariation
disease
BEFREE
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I ).
8923000
1996
×
Entrez Id:
1289
Gene Symbol:
COL5A1
COL5A1
0.730
Biomarker
disease
CTD_human
The gene encoding collagen alpha1(V)(COL5A1 ) is linked to mixed Ehlers-Danlos syndrome type I /II.
8752669
1996
×
Entrez Id:
1290
Gene Symbol:
COL5A2
COL5A2
0.500
Biomarker
disease
MGD
Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
25987251
2015
×
Entrez Id:
1290
Gene Symbol:
COL5A2
COL5A2
0.500
Biomarker
disease
GENOMICS_ENGLAND
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
9425231
1998
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
Lumican suppresses cell proliferation and aids Fas-Fas ligand mediated apoptosis: implications in the cornea.
15051477
2004
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
Neonatal corneal stromal development in the normal and lumican-deficient mouse.
12556382
2003
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
Ocular and scleral alterations in gene-targeted lumican-fibromodulin double-null mice.
12766039
2003
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
An x-ray diffraction investigation of corneal structure in lumican-deficient mice.
11431438
2001
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons.
11076963
2000
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
Corneal opacity in lumican-null mice: defects in collagen fibril structure and packing in the posterior stroma.
11006226
2000
×
Entrez Id:
4060
Gene Symbol:
LUM
LUM
0.200
Biomarker
disease
MGD
Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican.
9606218
1998
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
0.010
Biomarker
disease
BEFREE
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.
1684560
1991