Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 20814950

2010
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 18435794

2008
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860

2006
dbSNP: rs281875371
rs281875371
ZMPSTE24
0.700 GeneticVariation UNIPROT Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070

2003