DisGeNET - a database of gene-disease associations

ZMPSTE24, zinc metallopeptidase STE24, 10269

N. diseases: 265; N. variants: 11

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908093

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

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:

rs121908093

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

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:

rs121908093

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

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:

rs121908093

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

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:

rs121908093

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908095

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.800

CausalMutation

CLINVAR

dbSNP:

rs281875371

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.700

GeneticVariation

UNIPROT

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

20814950

2010

dbSNP:

rs281875371

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.700

GeneticVariation

UNIPROT

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

18435794

2008

dbSNP:

rs281875371

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.700

GeneticVariation

UNIPROT

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

17152860

2006

dbSNP:

rs281875371

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.700

GeneticVariation

UNIPROT

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

12913070

2003

dbSNP:

rs121908094

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1837756
Disease:

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C0878660
Disease:

Proportionate short stature

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1857790
Disease:

Thoracic scoliosis

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1855650
Disease:

Birth length less than 3rd percentile

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C0423110
Disease:

Downward slant of palpebral fissure

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C0005744
Disease:

Blepharophimosis

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C1849075
Disease:

Relative macrocephaly

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C0151526
Disease:

Premature Birth

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C3278923
Disease:

Dilated ventricles (finding)

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C0575802
Disease:

Small hand

0.700

CausalMutation

CLINVAR

dbSNP:

rs137854889

Entrez Id:	10269
Gene Symbol:	ZMPSTE24

ZMPSTE24

CUI:	C4281993
Disease:

Neonatal respiratory distress

0.700

CausalMutation

CLINVAR