G2Cdb::Human Disease report
- Disease id
- D00000145
- Name
- Pseudohypoparathyroidism type 1b
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001473 | GNAS GNAS complex locus |
Y | (11029463) | Deletion (D) | Y |