Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.600 Biomarker GENOMICS_ENGLAND Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. 21353196

2011

Entrez Id: 6678
Gene Symbol: SPARC
SPARC
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.520 Biomarker GENOMICS_ENGLAND Recessive osteogenesis imperfecta caused by missense mutations in SPARC. 26027498

2015

Entrez Id: 7471
Gene Symbol: WNT1
WNT1
CUI: C0029434
Disease: Osteogenesis Imperfecta
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.310 Biomarker GENOMICS_ENGLAND Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 31564437

2019

Entrez Id: 55603
Gene Symbol: TENT5A
TENT5A
CUI: C0029434
Disease: Osteogenesis Imperfecta
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
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.300 Biomarker GENOMICS_ENGLAND Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. 26365339

2015