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 CausalMutation phenotype CLINVAR Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy. 28668235 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy. 28668235 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? 24891183 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? 24891183 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Caffey disease: new perspectives on old questions. 24389367 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Osteogenesis imperfecta: diagnosis and treatment. 24964776 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. 24715559 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Caffey disease: new perspectives on old questions. 24389367 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. 24715559 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Osteogenesis imperfecta: diagnosis and treatment. 24964776 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? 23522764 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 GeneticVariation phenotype CLINVAR Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. 23735642 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years? 23522764 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. 23735642 2013
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
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Caffey disease in neonatal period: the importance of the family! 23047998 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. 21801164 2012
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 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. 20087402 2010