DisGeNET - a database of gene-disease associations

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, C1837756

Variant: rs121908093 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908093

ZMPSTE24

0.800

GeneticVariation

UNIPROT

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.

20814950

2010

dbSNP:

rs121908093

ZMPSTE24

0.800

GeneticVariation

UNIPROT

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.

18435794

2008

dbSNP:

rs121908093

ZMPSTE24

0.800

GeneticVariation

UNIPROT

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

17152860

2006

dbSNP:

rs121908093

ZMPSTE24

0.800

GeneticVariation

UNIPROT

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

12913070

2003

dbSNP:

rs121908093

ZMPSTE24

0.800

CausalMutation

CLINVAR