INS, insulin, 3630

N. diseases: 405; N. variants: 37
Disease: Thiamine responsive megaloblastic anemia syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		0.010 GeneticVariation disease BEFREE Among children with diabetes diagnosed between 6 and 12months, 1 patient had an INS mutation and one patient was homozygous for an SLC19A2 mutation which confirmed a diagnosis of thiamine-responsive megaloblastic anaemia syndrome. 27329029 2016