ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908095
rs121908095
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease:
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.800 GeneticVariation UNIPROT Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 20814950 2010
dbSNP: rs121908095
rs121908095
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease:
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.800 GeneticVariation UNIPROT Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 18435794 2008
dbSNP: rs121908095
rs121908095
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease:
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.800 GeneticVariation UNIPROT Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. 17152860 2006
dbSNP: rs121908095
rs121908095
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease:
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		0.800 GeneticVariation UNIPROT Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 12913070 2003
dbSNP: rs121908095
rs121908095
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
CUI: C1837756
Disease:
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 		T 0.800 CausalMutation CLINVAR