OMIA:000841-9925 : Pulmonary hypertension in Capra hircus (goat)
Categories: Respiratory system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Cross-species summary: Hypoxia
Markers: Song et al. (2016) reported that "The missense mutation Q579L that we identified in EPAS1, which occurs next to the Hypoxia-Inducible Factor-1 (HIF-1) domain, was exclusively enriched in the high-altitude populations."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EPAS1||endothelial PAS domain protein 1||Capra hircus||11||NC_030818.1 (28318780..28411296)||EPAS1||Homologene, Ensembl , NCBI gene|
Cite this entry
|2016||Song, S., Yao, N., Yang, M., Liu, X., Dong, K., Zhao, Q., Pu, Y., He, X., Guan, W., Yang, N., Ma, Y., Jiang, L. :|
|Exome sequencing reveals genetic differentiation due to high-altitude adaptation in the Tibetan cashmere goat (Capra hircus). BMC Genomics 17:122, 2016. Pubmed reference: 26892324 . DOI: 10.1186/s12864-016-2449-0.|
- Created by Frank Nicholas on 28 Oct 2016
- Changed by Frank Nicholas on 28 Oct 2016