DisGeNET - a database of gene-disease associations

MYOC, myocilin, 4653

N. diseases: 10; N. variants: 39

Source: CURATED ×

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:

rs74315336

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

17499207

2007

dbSNP:

rs74315338

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

17499207

2007

dbSNP:

rs74315338

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

17210859

2007

dbSNP:

rs74315339

Entrez Id:	4653
Gene Symbol:	MYOC

MYOC

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

17499207

2007

dbSNP:

rs74315339

Entrez Id:	4653
Gene Symbol:	MYOC

MYOC

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

17210859

2007

dbSNP:

rs74315340

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

17210859

2007

dbSNP:

rs74315340

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

17499207

2007

dbSNP:

rs74315341

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

17210859

2007

dbSNP:

rs74315341

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

17499207

2007

dbSNP:

rs121909193

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs121909194

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315328

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315330

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315331

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315332

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315334

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315335

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315336

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315338

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315339

Entrez Id:	4653
Gene Symbol:	MYOC

MYOC

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315340

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs74315341

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.

16401791

2006

dbSNP:

rs121909193

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma.

15255110

2004

dbSNP:

rs121909193

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

15025728

2004

dbSNP:

rs121909193

Entrez Id:	4653;110806290
Gene Symbol:	MYOC;MYOCOS

MYOC;MYOCOS

CUI:	C1842028
Disease:

GLAUCOMA 1, OPEN ANGLE, A

0.800

GeneticVariation

UNIPROT

Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.

15534471

2004