Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 Biomarker disease MGD
Entrez Id: 55512
Gene Symbol: SMPD3
SMPD3 		0.200 Biomarker disease MGD
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.200 Biomarker disease MGD
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. 1353940 1992
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. 1972760 1990
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease BEFREE OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. 1972760 1990
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. 22795108 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease BEFREE Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. 6954526 1982
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. 23529829 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 AlteredExpression disease BEFREE COL1A1 and miR-29b showed lower expression values in OI type I and type III samples. 24767406 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 Biomarker disease BEFREE COL1A1 and COL1A2 were analyzed in 79 children with OI (type I n=33, type III n=25 and type IV n=21) treated with Pamidronate. 26957348 2016
Entrez Id: 50964
Gene Symbol: SOST
SOST 		0.010 AlteredExpression disease BEFREE SOST levels increased in the group of patients with type I OI during therapy with teriparatide (compared with placebo, p = 0.01). 29044725 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease BEFREE COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. 30829463 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease UNIPROT A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta. 3244312 1988
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. 19751715 2009
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 7860070 1995
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 2993307 1985
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 2993307 1985
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE A mutation of the gene COL1A1 was found, which is consistent with OI type I. 20034948 2010
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. 21884818 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease UNIPROT A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. 24682174 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family. 22565191 2012
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR A rare case of osteogenesis imperfecta combined with complete tooth loss. 23934635 2014