G2Cdb::Human Disease report
- Disease id
- D00000143
- Name
- Pseudohypoparathyroidism
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001473 | GNAS GNAS complex locus |
Y | (9876352) | Deletion (D) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (9876352) | Microinsertion (MI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (9876352) | Microinsertion (MI) | Y |
| G00001473 | GNAS GNAS complex locus |
Y | (16116826) | Nonsense (No) | Y |