OMIA:000841-9925 : Pulmonary hypertension in Capra hircus (goat)

In other species: chicken , pig , taurine cattle , indicine cattle (zebu) , sheep

Categories: Respiratory system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611783 (trait) , 603349 (gene)

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."

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].


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