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: rs121909193
rs121909193
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C1842028
Disease:
GLAUCOMA 1, OPEN ANGLE, A 		0.800 GeneticVariation UNIPROT Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. 9490287 1998
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 Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. 15255110 2004
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 Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 15025728 2004
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 Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. 10196380 1999
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 Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. 9792882 1998
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 Founder TIGR/myocilin mutations for glaucoma in the Québec population. 12189160 2002
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 Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 11004290 2000
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: rs121909193
rs121909193
Entrez Id: 4653;110806290
Gene Symbol: MYOC;MYOCOS
MYOC;MYOCOS
CUI: C1842028
Disease:
GLAUCOMA 1, OPEN ANGLE, A 		0.800 GeneticVariation UNIPROT Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma. 10340788 1999
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 Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 12362081 2002
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 Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. 12860809 2003
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 Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. 15534471 2004
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 Identification of a gene that causes primary open angle glaucoma. 9005853 1997
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 Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma. 10916185 2000
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 Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 16401791 2006
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 Genetic screening in a large family with juvenile onset primary open angle glaucoma. 10873982 2000
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 analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 12872267 2003
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 Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. 9697688 1998
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 Novel mutations in the TIGR gene in early and late onset open angle glaucoma. 9521427 1998
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 Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 11004290 2000
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 Genetic screening in a large family with juvenile onset primary open angle glaucoma. 10873982 2000
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 analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 12872267 2003
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 Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 15025728 2004
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 Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. 15255110 2004