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 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762

2000
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762

2000
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Ehlers-Danlos syndrome type VII: clinical features and molecular defects. 10073586

1999
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Ehlers-Danlos syndrome type VII: clinical features and molecular defects. 10073586

1999
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Heterogeneity of osteogenesis imperfecta type I. 6876111

1983
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Heterogeneity of osteogenesis imperfecta type I. 6876111

1983
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Infantile cortical hyperostosis; a review of the clinical and radiographic features. 13431894

1957
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Infantile cortical hyperostosis; a review of the clinical and radiographic features. 13431894

1957
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker HPO