Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
amelogenesis imperfecta hypomaturation type 2A3
Summary
- Synonym
-
- AI2A3
- amelogenesis imperfecta hypomaturation type IIA3
- amelogenesis imperfecta type IIA3
- Definition
- An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.
- Super Class
- amelogenesis imperfecta autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110061
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04828 | Aldo-keto reductase family 1 member C1 | |
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 | |
| Q9NPA2 | Matrix metalloproteinase-25 |
