AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Hypoparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 GeneticVariation disease BEFREE Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. 28323927 2017
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 GeneticVariation disease BEFREE The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. 28540407 2017
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 AlteredExpression disease BEFREE Eight percentage of patients with isolated HP had elevated IFN-α antibody levels and AIRE mutation-positive APS1. 27219120 2016
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 Biomarker disease BEFREE AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. 20718774 2010
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in AIRE cause autoimmune polyglandular syndrome type 1 (APS 1), which manifests in a classic triad of hypoparathyroidism, adrenal insufficiency, and candidiasis. 18414681 2008
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 GeneticVariation disease BEFREE A fourth patient had primary adrenal failure and hypoparathyroidism without AIRE mutations or APS-I specific autoantibodies. 18426830 2008
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.160 Biomarker disease HPO