Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Caffey disease: new perspectives on old questions. 24389367

2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Osteogenesis imperfecta: diagnosis and treatment. 24964776

2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. 24715559

2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Caffey disease: new perspectives on old questions. 24389367

2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. 24715559

2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Osteogenesis imperfecta: diagnosis and treatment. 24964776

2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Caffey disease in neonatal period: the importance of the family! 23047998

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. 21801164

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Caffey disease in neonatal period: the importance of the family! 23047998

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. 21801164

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. 21344539

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Osteogenesis Imperfecta: A Review with Clinical Examples. 22570641

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. 21344539

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Osteogenesis Imperfecta: A Review with Clinical Examples. 22570641

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. 20087402

2010