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Browse result for autosomal recessive craniometaphyseal dysplasia
※ introduction A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.
Reference
DiseaseOntology: autosomal recessive craniometaphyseal dysplasia
Reference
DiseaseOntology: autosomal recessive craniometaphyseal dysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00895 | P17302 | 2697 | GJA1 | Gap junction alpha-1 protein | Homo sapiens |