OMIA:000841-9925 : Pulmonary hypertension in Capra hircus (goat) |
In other species: chicken , dog , domestic cat , pig , taurine cattle , indicine cattle (zebu) , sheep
Categories: Cardiovascular system phene , Respiratory system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611783 (trait) , 603349 (gene)
Mendelian trait/disorder: unknown
Disease-related: 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."
Associated gene:
| 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
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:000841-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 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. |
Edit History
- Created by Frank Nicholas on 28 Oct 2016
- Changed by Frank Nicholas on 28 Oct 2016