GMPPA, GDP-mannose pyrophosphorylase A, 29926

N. diseases: 34; N. variants: 8
Disease: Glucocorticoid deficiency with achalasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.300 GermlineCausalMutation disease ORPHANET Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 24035193 2013