×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.
20087402
2010
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
17078022
2007
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
17078022
2007
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
15864348
2005
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
15864348
2005
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
10739762
2000
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
10739762
2000
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
10073586
1999
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
10073586
1999
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
9295084
1997
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
9295084
1997
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Heterogeneity of osteogenesis imperfecta type I.
6876111
1983
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
Heterogeneity of osteogenesis imperfecta type I.
6876111
1983
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
GeneticVariation
phenotype
CLINVAR
Infantile cortical hyperostosis; a review of the clinical and radiographic features.
13431894
1957
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
CausalMutation
phenotype
CLINVAR
Infantile cortical hyperostosis; a review of the clinical and radiographic features.
13431894
1957
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
0.100
Biomarker
phenotype
HPO