GRPEL1, GrpE like 1, mitochondrial, 80273

N. diseases: 4; N. variants: 2
Disease: Goiter ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018021
Disease: Goiter
Goiter 		0.010 GeneticVariation phenotype BEFREE In one of the families, we found two rare heterozygous missense variants, p.V56M in RGS12 and p.G37D in GRPEL1, which segregate with goiter and are both located within the same haplotype on 4p16. 23535966 2013