Last Posted: Aug 15, 2018
- An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia.
Furuzawa-Carballeda Janette, et al. PloS one 2018 0 (8) e0201676
- Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia.
Becker Jessica, et al. European journal of gastroenterology & hepatology 2016 2
- Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases.
Lenz Tobias L, et al. Nature genetics 2015 9 (9) 1085-90
- Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia.
Gockel Ines, et al. Nature genetics 2014 8 (8) 901-4
- Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: Association with IL33 gene variant.
Latiano Anna et al. Hum. Immunol. 2014 Apr (4) 364-9
- Genetic variation in the lymphotoxin-a (LTA)/tumour necrosis factor-a (TNFa) locus as a risk factor for idiopathic achalasia.
Wouters MM, et al. Gut 2013 11
- Association of IL10 promoter polymorphisms with idiopathic achalasia.
Nuñez Concepción, et al. Human immunology 2011 9 (9) 749-52
- Idiopathic achalasia
From NCATS Genetic and Rare Diseases Information Center
- Association between idiopathic achalasia and IL23R gene.
de León AR, et al. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2010 3
- Suggested association of NOS2A polymorphism in idiopathic achalasia: no evidence in a large case-control study.
Vigo Ana González, et al. The American journal of gastroenterology 2009 5 (5) 1326-7
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
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