Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Structural basis for misfolding in myocilin-associated glaucoma. 25524706

2015
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. 17210859

2007
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. 17499207

2007
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 16401791

2006
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227. 15795224

2005
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 15025728

2004
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. 15534471

2004
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. 15255110

2004
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. 12860809

2003
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 12872267

2003
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Founder TIGR/myocilin mutations for glaucoma in the Québec population. 12189160

2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. 12356829

2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. 12442283

2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 12362081

2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 11774072

2002
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Novel mutations in the myocilin gene in Japanese glaucoma patients. 10980537

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma. 10916185

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. 10798654

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Novel mutation in the MYOC gene in primary open glaucoma patients. 10819638

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Novel TIGR sequence alteration Val53Ala. 10644174

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 11004290

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Genetic screening in a large family with juvenile onset primary open angle glaucoma. 10873982

2000
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma. 10340788

1999
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. 10196380

1999
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation UNIPROT Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. 10330365

1999