Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		0.500 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		0.320 GermlineCausalMutation disease ORPHANET What is new in genetics and osteogenesis imperfecta classification? 25046257 2015
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10 		0.320 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 7471
Gene Symbol: WNT1
WNT1 		0.320 GermlineCausalMutation disease ORPHANET Biallelic loss-of-function mutations in WNT1 result in a recessive clinical picture that includes bone fragility with a moderately severe and progressive presentation that is not easily distinguished from dominant OI type III. 23499310 2013
Entrez Id: 7471
Gene Symbol: WNT1
WNT1 		0.320 GermlineCausalMutation disease ORPHANET What is new in genetics and osteogenesis imperfecta classification? 25046257 2015
Entrez Id: 64175
Gene Symbol: P3H1
P3H1 		0.300 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
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: 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: 5176
Gene Symbol: SERPINF1
SERPINF1 		0.300 GermlineCausalMutation disease ORPHANET What is new in genetics and osteogenesis imperfecta classification? 25046257 2015
Entrez Id: 10491
Gene Symbol: CRTAP
CRTAP 		0.300 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 5479
Gene Symbol: PPIB
PPIB 		0.300 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
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: 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: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 Biomarker disease CTD_human
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 Biomarker disease GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.990 Biomarker disease MGD Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2012
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: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease GENOMICS_ENGLAND
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: 1278
Gene Symbol: COL1A2
COL1A2 		0.950 Biomarker disease MGD Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering. 8567960 1996
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