×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
Osteogenesis Imperfecta
0.900
Biomarker
CTD_human
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen.
8757037
1996
×
Entrez Id:
1277
Gene Symbol:
COL1A1
COL1A1
Osteogenesis Imperfecta
0.900
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
Osteogenesis Imperfecta
0.700
Biomarker
GENOMICS_ENGLAND
SERPINF1
Osteogenesis Imperfecta
0.600
Biomarker
GENOMICS_ENGLAND
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
21353196
2011
×
Entrez Id:
64175
Gene Symbol:
P3H1
P3H1
Osteogenesis Imperfecta
0.600
Biomarker
CTD_human
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
18566967
2008
×
Entrez Id:
10491
Gene Symbol:
CRTAP
CRTAP
Osteogenesis Imperfecta
0.600
Biomarker
CTD_human
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
18566967
2008
×
Entrez Id:
6678
Gene Symbol:
SPARC
SPARC
Osteogenesis Imperfecta
0.520
Biomarker
GENOMICS_ENGLAND
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
26027498
2015
×
Entrez Id:
6678
Gene Symbol:
SPARC
SPARC
Osteogenesis Imperfecta
0.520
Biomarker
CTD_human
Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.
1793673
1991
×
Entrez Id:
7471
Gene Symbol:
WNT1
WNT1
Osteogenesis Imperfecta
0.400
Biomarker
GENOMICS_ENGLAND
Mutations in WNT1 cause different forms of bone fragility.
23499309
2013
×
Entrez Id:
7471
Gene Symbol:
WNT1
WNT1
Osteogenesis Imperfecta
0.400
Biomarker
GENOMICS_ENGLAND
Imaging techniques for measuring adipose-tissue distribution--a comparison between computed tomography and 1.5-T magnetic resonance.
2349931
1990
×
Entrez Id:
55151
Gene Symbol:
TMEM38B
TMEM38B
Osteogenesis Imperfecta
0.390
Biomarker
GENOMICS_ENGLAND
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
23054245
2012
×
Entrez Id:
5352
Gene Symbol:
PLOD2
PLOD2
Osteogenesis Imperfecta
0.350
Biomarker
GENOMICS_ENGLAND
Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity.
22689593
2012
×
Entrez Id:
5034
Gene Symbol:
P4HB
P4HB
Osteogenesis Imperfecta
0.320
Biomarker
GENOMICS_ENGLAND
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
25683117
2015
×
Entrez Id:
23184
Gene Symbol:
MESD
MESD
Osteogenesis Imperfecta
0.310
Biomarker
GENOMICS_ENGLAND
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
31564437
2019
×
Entrez Id:
55603
Gene Symbol:
TENT5A
TENT5A
Osteogenesis Imperfecta
0.300
Biomarker
GENOMICS_ENGLAND
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
29358272
2018
×
Entrez Id:
202018
Gene Symbol:
TAPT1
TAPT1
Osteogenesis Imperfecta
0.300
Biomarker
GENOMICS_ENGLAND
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
26365339
2015