Last Posted: Sep 15, 2016
- New insights into the genetic component of non-infectious uveitis through an Immunochip strategy.
Márquez Ana, et al. Journal of medical genetics 2016 9
- Molecular Genetic Advances in Uveitis.
Hou Shengping, et al. Progress in molecular biology and translational science 2015 0 283-98
- A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Kuiper Jonas J W, et al. Human molecular genetics 2014 11 (22) 6081-7
- ERAP1 polymorphism relevant to inflammatory disease shapes the peptidome of the birdshot chorioretinopathy-associated HLA-A*29:02 antigen.
Alvarez-Navarro Carlos et al. Mol. Cell Proteomics 2015 Apr 19.
- Birdshot chorioretinopathy
From NCATS Genetic and Rare Diseases Information Center
- Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals.
Levinson R D, et al. Genes and immunity 2008 4 (3) 249-58
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.