Last Posted: Aug 09, 2021
- Association of miRNA-492 rs2289030 G>C and miRNA-938 rs2505901 T>C Gene Polymorphisms with Biliary Atresia Susceptibility.
Su Liang, et al. Biomedical and environmental sciences : BES 2021 7 (7) 577-580
- A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.
Chen Ying, et al. PLoS genetics 2018 0 (8) e1007532
- PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children.
Liu Fei, et al. Bioscience reports 2020 7
- Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.
Nicastro Emanuele et al. The Journal of pediatrics 2019 21154-62.e4
- Irrelevance of USF2 rs916145 polymorphism with the risk of biliary atresia susceptibility in Southern Chinese children.
Chen Lei, et al. Bioscience reports 2020 2 (2)
- Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct
- Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese.
Liu Bailing, et al. Gene 2017 9 87-92
- Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population.
Lin Zefeng, et al. Molecular therapy. Nucleic acids 2018 10 590-595
- Diagnostic Accuracy of Serum Matrix Metalloproteinase-7 for Biliary Atresia.
Yang Li et al. Hepatology (Baltimore, Md.) 2018 Aug
- Association of IL18 genetic polymorphisms with increased risk of Biliary atresia susceptibility in Southern Chinese children.
Liang Jiankun, et al. Gene 2018 7
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.