46 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. it is one of a spectrum of skeletal disorders caused by mutations in the col2a1 gene. this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. most cases result from new mutations in the gene and occur in people with no history of the disorder in their family
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.