Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress. 9202055 1997
Entrez Id: 55512
Gene Symbol: SMPD3
SMPD3 		0.200 Biomarker disease MGD Craniofacial consequences of connective tissue disorders in mice. 6391574 1984
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. 8446583 1993
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1 		0.300 GermlineCausalMutation disease ORPHANET Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. 24079343 2013
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649 1996
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1 		0.300 GermlineCausalMutation disease ORPHANET Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. 21353196 2011
Entrez Id: 7471
Gene Symbol: WNT1
WNT1 		0.320 GeneticVariation disease BEFREE Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. 28665926 2017
Entrez Id: 55512
Gene Symbol: SMPD3
SMPD3 		0.200 Biomarker disease MGD Fragilitas ossium (fro/fro) in the mouse: a model for a recessively inherited type of osteogenesis imperfecta. 8456819 1993
Entrez Id: 55512
Gene Symbol: SMPD3
SMPD3 		0.200 Biomarker disease MGD Fragilitas ossium: a new autosomal recessive mutation in the mouse. 6801109 1982
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease UNIPROT Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen. 2037280 1991
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. 7720740 1995
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism. 8800927 1996
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta. 8968022 1996
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		0.500 Biomarker disease GENOMICS_ENGLAND Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. 20188343 2010
Entrez Id: 649
Gene Symbol: BMP1
BMP1 		0.300 GermlineCausalMutation disease ORPHANET Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. 22052668 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.010 Biomarker disease BEFREE In addition, the cortical thickness of the tibial midshaft was increased (+42%, p < 0.001), as well as BMD (+28%, p < 0.001), ultimate load (+86%, p < 0.05), plastic energy (+184%; p < 0.05) and stiffness (+172%; p < 0.01) in OI Scl-Ab mice compared to OI vehicle controls. 31051315 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		0.010 Biomarker disease BEFREE In addition, the cortical thickness of the tibial midshaft was increased (+42%, p < 0.001), as well as BMD (+28%, p < 0.001), ultimate load (+86%, p < 0.05), plastic energy (+184%; p < 0.05) and stiffness (+172%; p < 0.01) in OI Scl-Ab mice compared to OI vehicle controls. 31051315 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease BEFREE In this study, we used MSCs from a patient with type III OI who was heterozygous for an IVS 41A+4C mutation in COL1A1. 15815702 2005
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease BEFREE Interestingly, one type III OI sample from a patient with Bruck Syndrome showed COL1A1 and miR-29b expressions alike those from normal samples. 24767406 2014
Entrez Id: 407024
Gene Symbol: MIR29B1
MIR29B1 		0.010 GeneticVariation disease BEFREE Interestingly, one type III OI sample from a patient with Bruck Syndrome showed COL1A1 and miR-29b expressions alike those from normal samples. 24767406 2014
Entrez Id: 407025
Gene Symbol: MIR29B2
MIR29B2 		0.010 GeneticVariation disease BEFREE Interestingly, one type III OI sample from a patient with Bruck Syndrome showed COL1A1 and miR-29b expressions alike those from normal samples. 24767406 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GeneticVariation disease UNIPROT Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 8456809 1993
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GeneticVariation disease UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006