DisGeNET - a database of gene-disease associations

GMDS, GDP-mannose 4,6-dehydratase, 2762

N. diseases: 33; N. variants: 14

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:

rs115986297

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs17134767

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs17134767

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3778519

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs62390617

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs722585

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs7757144

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs3778523

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

30054594

2018

dbSNP:

rs6914086

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

29785010

2018

dbSNP:

rs722585

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

29785010

2018

dbSNP:

rs9378319

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new loci influencing intraocular pressure.

29617998

2018

dbSNP:

rs9378671

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify new loci influencing intraocular pressure.

29617998

2018

dbSNP:

rs9392348

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0017612
Disease:

Glaucoma, Open-Angle

0.700

GeneticVariation

GWASCAT

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

29891935

2018

dbSNP:

rs9405157

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

30054594

2018

dbSNP:

rs9405157

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

29785010

2018

dbSNP:

rs115986297

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs115986297

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0518015
Disease:

Hemoglobin measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs115986297

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0018935
Disease:

Hematocrit procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs11969985

Entrez Id:	2762
Gene Symbol:	GMDS

GMDS

CUI:	C0017612
Disease:

Glaucoma, Open-Angle

0.700

GeneticVariation

GWASCAT

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

25173105

2014

dbSNP:

rs9503012

Entrez Id:	2762;107986513
Gene Symbol:	GMDS;LOC107986513

GMDS;LOC107986513

CUI:	C0339573
Disease:

Glaucoma, Primary Open Angle

0.010

GeneticVariation

BEFREE

GMDS rs9503012 C>T and PTGFR rs3766355 A>C may be associated with IOP response to latanoprost in POAG patients.

27862086

2017