DisGeNET - a database of gene-disease associations

MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; 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:

rs755948940

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs761991070

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs755948940

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs761991070

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.800

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs755948940

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.800

CausalMutation

CLINVAR

dbSNP:

rs761991070

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.800

CausalMutation

CLINVAR

dbSNP:

rs3794625

Entrez Id:	4597;197187
Gene Symbol:	MVD;SNAI3-AS1

MVD;SNAI3-AS1

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs200033380

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs546127665

Entrez Id:	1535;4597
Gene Symbol:	CYBA;MVD

CYBA;MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs776358937

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs776684503

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Genomic variations of the mevalonate pathway in porokeratosis.

26202976

2015

dbSNP:

rs200033380

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs546127665

Entrez Id:	1535;4597
Gene Symbol:	CYBA;MVD

CYBA;MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs776358937

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs776684503

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.

18823933

2008

dbSNP:

rs144010349

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

dbSNP:

rs770939767

Entrez Id:	4597
Gene Symbol:	MVD

MVD

CUI:	C3553549
Disease:

POROKERATOSIS 7, MULTIPLE TYPES

0.700

GeneticVariation

UNIPROT

dbSNP:

rs16966671

Entrez Id:	1535;4597
Gene Symbol:	CYBA;MVD

CYBA;MVD

CUI:	C0003165
Disease:

Anthracosis

0.010

GeneticVariation

BEFREE

No statistically significant difference was demonstrated in either the allele or genotype frequencies of the other four examined SNPs (rs13306296, rs4673, rs9932581, and rs16966671) between the CWP group and dust-exposed control group (all p > .05).

30654669

2019

dbSNP:

rs9932581

Entrez Id:	1535;4597
Gene Symbol:	CYBA;MVD

CYBA;MVD

CUI:	C0022658
Disease:

Kidney Diseases

0.010

GeneticVariation

BEFREE

The major G-allele of rs9932581 was associated with the incidence of renal events defined as new cases of microalbuminuria or the progression to a more severe stage of nephropathy during follow-up (HR 1.59, 95% CI 1.17-2.18, P=0.003) in SURGENE.

25862415

2015