Annotation Detail
Information
- Associated Genes
- COASY
- Associated Variants
-
COASY MUTATION
COASY MUTATION - Associated Disease
- Hyperphosphatemia (disorder)
- Source Database
- DisGeNET
- Description
- Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia and hyperphosphatemia associated with a GNAS (guanine nucleotide-binding protein α-subunit) mutation (PHP1A) or epimutation (PHP1B).
- Pubmed
- 25591844
- Section of the abstract supporting the evidence
- UNLABELLED
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs