rs1313275799, AP4E1

N. diseases: 2
Disease: Mycobacterium Infections ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mycobacterium Infections
CUI: C0026918
Disease: Mycobacterium Infections
0.010 GeneticVariation BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171 2013