Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 407024
Gene Symbol: MIR29B1
MIR29B1 		0.010 AlteredExpression disease BEFREE COL1A1 and miR-29b showed lower expression values in OI type I and type III samples. 24767406 2014
Entrez Id: 407025
Gene Symbol: MIR29B2
MIR29B2 		0.010 AlteredExpression disease BEFREE COL1A1 and miR-29b showed lower expression values in OI type I and type III samples. 24767406 2014
Entrez Id: 5358
Gene Symbol: PLS3
PLS3 		0.010 GeneticVariation disease BEFREE Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. 24088043 2013
Entrez Id: 80316
Gene Symbol: PPP1R2C
PPP1R2C 		0.010 GeneticVariation disease BEFREE One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4. 18670065 2008
Entrez Id: 51365
Gene Symbol: PLA1A
PLA1A 		0.010 GeneticVariation disease BEFREE Mutations identified in patients with OI type I lead to premature termination codons and allele-specific reductions of nuclear mRNA (termed nonsense-mediated mRNA decay or NMD), resulting in a COL1A1 null allele. 10686420 2000
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: 10491
Gene Symbol: CRTAP
CRTAP 		0.300 Biomarker disease CTD_human CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. 18566967 2008
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		0.300 Biomarker disease CTD_human CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. 18566967 2008
Entrez Id: 6678
Gene Symbol: SPARC
SPARC 		0.300 Biomarker disease CTD_human Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility. 1793673 1991
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: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 29595812 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 26371943 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872 2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 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: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266 2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872 2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 GeneticVariation disease CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.890 CausalMutation disease CLINVAR Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. 26471105 2016