MYOC, myocilin, 4653

N. diseases: 79; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Structural basis for misfolding in myocilin-associated glaucoma. 25524706 2015
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. 17210859 2007
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. 17499207 2007
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 16401791 2006
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227. 15795224 2005
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 15025728 2004
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. 15534471 2004
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. 15255110 2004
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. 12860809 2003
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 12872267 2003
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Founder TIGR/myocilin mutations for glaucoma in the Québec population. 12189160 2002
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma. 12356829 2002
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. 12442283 2002
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 12362081 2002
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 11774072 2002
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Novel mutations in the myocilin gene in Japanese glaucoma patients. 10980537 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma. 10916185 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. 10798654 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Novel mutation in the MYOC gene in primary open glaucoma patients. 10819638 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Novel TIGR sequence alteration Val53Ala. 10644174 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 11004290 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Genetic screening in a large family with juvenile onset primary open angle glaucoma. 10873982 2000
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma. 10340788 1999
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. 10196380 1999
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.720 GeneticVariation disease UNIPROT Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. 10330365 1999