SLC37A4, solute carrier family 37 member 4, 2542

N. diseases: 73; N. variants: 67
Disease: Congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.010 GeneticVariation disease BEFREE Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B). 20008220 2009