NUDT11, nudix hydrolase 11, 55190

N. diseases: 37; N. variants: 0
Disease: Hypoparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.020 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 		0.020 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