Osteogenesis

Osteogenesis imperfecta and type III collagen mutations

All published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP and LEPRE1 genes.

IDOsteogenesis
Homehttps://oi.gene.le.ac.uk
EDAM topicHuman disease
TaxonHomo sapiens

Available data

Data Format Query Link
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) http://oi.gene.le.ac.uk/home.php?select_db=%s

Example queries

Data Format Query Example
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) COL1A1
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) COL1A2
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) CRTAP
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) FKBP10
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) LEPRE1
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) PPIB
Sequence variation annotation {Sequence variants} HTML Database name (Osteogenesis) SERPINH1