G2Cdb::Human Disease report
- Disease id
- D00000293
- Name
- Albright hereditary osteodystrophy
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001473 | GNAS GNAS complex locus |
Y | (1505964) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (10487696) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11412411) | Single nucleotide polymorphism (SNP) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11600516) | Microinsertion (MI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11600516) | Insertion (I) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11600516) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11600516) | Splice site mutation (SpS) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12407707) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12621129) | Single nucleotide insertion (SNI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12621129) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12621129) | Single nucleotide polymorphism (SNP) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12621129) | Single nucleotide deletion (SND) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12621129) | Microinsertion (MI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12621129) | Nonsense (No) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (12656668) | Single nucleotide polymorphism (SNP) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (16116826) | Nonsense (No) | Y |