MYOC, myocilin, 4653

N. diseases: 10; N. variants: 39
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0017601
Disease:
Glaucoma 		A 0.800 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR Cellular processing of myocilin. 24732711 2014
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. 22933836 2012
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations. 23304066 2012
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation. 20021252 2010
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin. 19023451 2008
dbSNP: rs121909193
rs121909193
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: rs121909193
rs121909193
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: rs121909194
rs121909194
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: rs121909194
rs121909194
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: rs74315328
rs74315328
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: rs74315328
rs74315328
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: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. 17615537 2007
dbSNP: rs74315329
rs74315329
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		A 0.800 GeneticVariation CLINVAR Myocilin variants in Indian patients with open-angle glaucoma. 17562996 2007
dbSNP: rs74315330
rs74315330
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: rs74315330
rs74315330
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: rs74315331
rs74315331
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: rs74315331
rs74315331
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: rs74315332
rs74315332
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: rs74315332
rs74315332
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: rs74315334
rs74315334
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: rs74315334
rs74315334
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: rs74315335
rs74315335
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: rs74315335
rs74315335
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: rs74315336
rs74315336
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