SLC19A2, solute carrier family 19 member 2, 10560

N. diseases: 70; N. variants: 15
Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.010 GeneticVariation disease BEFREE The patient with PNDM had c.848G>A (p.W283X) homozygous mutation in SLC19A2. 28371426 2018