Gene: COL1A1 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker phenotype HPO
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 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 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 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 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 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 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 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 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 GeneticVariation phenotype CLINVAR A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings. 22174522 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. 21344539 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Osteogenesis Imperfecta: A Review with Clinical Examples. 22570641 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. 21344539 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Osteogenesis Imperfecta: A Review with Clinical Examples. 22570641 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings. 22174522 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Caffey disease in neonatal period: the importance of the family! 23047998 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. 21801164 2012