G2Cdb::Human Disease report
- Disease id
- D00000144
- Name
- Pseudohypoparathyroidism type 1a
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001473 | GNAS GNAS complex locus |
Y | (8557265) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (8809352) | Single nucleotide polymorphism (SNP) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (10094437) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11095461) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11788646) | Microinsertion (MI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11788646) | Unknown (?) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11926205) | Microinsertion (MI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11926205) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (11926205) | Insertion (I) | Y |