Annotation Detail
Information
- Associated Genes
- HIF1A
- Associated Variants
-
HIF1A MUTATION
HIF1A MUTATION - Associated Disease
- pulmonary hypertension
- Source Database
- DisGeNET
- Description
- These observations suggest that altered glucose metabolism and G6PD overactivation play a key role in switching the PASM cells from the contractile to synthetic phenotype by increasing Sp1 and HIF-1α, which suppresses myocardin, a key cofactor that maintains smooth muscle cell in contractile state, and increasing hypoxia-induced PASM cell growth, and hence contribute to pulmonary arterial remodeling and pathogenesis of pulmonary hypertension.
- Pubmed
- 25480333
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree,CTD_human,RGD
- DisGENET score for the Gene Disease association
- 0.202171534976642
Drugs