eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| open-angle glaucoma | ||||
| Disease ID | 641 |
|---|---|
| Disease | open-angle glaucoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C0856169 | endothelial dysfunction C0730289 | choroidal ischemia C0595921 | intraocular pressure C0259749 | autonomic neuropathy C0235267 | red eyes C0206368 | glaucoma capsulare C0036454 | visual field loss C0036454 | visual field defects C0036454 | visual field defect C0036454 | scotoma C0034951 | refractive errors C0028840 | ocular hypertension C0019080 | hemorrhage |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0021888 | intraocular pressure | 65 C0028840 | ocular hypertension | 12 C0036454 | visual field loss | 4 C0036454 | visual field defect | 4 C0036454 | visual field defects | 3 C0027092 | myopia | 1 C0017601 | glaucoma | 1 C0036454 | scotoma | 1 C0152439 | retinoschisis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:14) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1063192 | 22419738 | 1030 | CDKN2B | umls:C0017612 | GAD | [A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.] | 0.002909916 | 2012 | CDKN2B;CDKN2B-AS1 | 9 | 22003368 | G | A |
| rs1063192 | 22840486 | 1030 | CDKN2B | umls:C0017612 | BeFree | The CDKN2B variant rs1063192 also was found to be associated more strongly with advanced OAG. | 0.002909916 | 2012 | CDKN2B;CDKN2B-AS1 | 9 | 22003368 | G | A |
| rs11258194 | 16885188 | 10133 | OPTN | umls:C0017612 | BeFree | To investigate the role of the common OPTN Met98Lys variant as a risk allele in open-angle glaucoma (OAG), autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON). | 0.044160113 | 2006 | OPTN | 10 | 13110400 | T | A |
| rs162562 | 21139974 | 1545 | CYP1B1 | umls:C0017612 | GAD | [Although no major effect of common variation at the CYP1B1 locus on POAG was found, there could be an effect of SNPs tagged by rs162562 and represented on the AGCAGCC haplotype.] | 0.041730949 | 2010 | CYP1B1;RMDN2 | 2 | 38070372 | G | T |
| rs17576 | 20808730 | 4313 | MMP2 | umls:C0017612 | BeFree | Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas. | 0.000542884 | 2010 | MMP9 | 20 | 46011586 | A | G |
| rs1799750 | 20808730 | 4313 | MMP2 | umls:C0017612 | BeFree | Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas. | 0.000542884 | 2010 | MMP1;WTAPP1 | 11 | 102799765 | C | - |
| rs243865 | 20808730 | 4313 | MMP2 | umls:C0017612 | BeFree | Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas. | 0.000542884 | 2010 | MMP2 | 16 | 55477894 | C | T |
| rs243866 | 20808730 | 4313 | MMP2 | umls:C0017612 | BeFree | Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas. | 0.000542884 | 2010 | MMP2 | 16 | 55477625 | G | A |
| rs3825942 | 18254956 | 4016 | LOXL1 | umls:C0017612 | GAD | [These results indicate that the G153D LOXL1 variant is significantly associated with an increased risk of pseudoexfoliation and pseudoexfoliation glaucoma in an ethnically diverse patient population from the Northeastern United States.] | 0.035024728 | 2008 | LOXL1;LOXL1-AS1 | 15 | 73927241 | G | A |
| rs386545618 | 25317717 | 4524 | MTHFR | umls:C0017612 | BeFree | The effect of MTHFR ala222val polymorphism on open-angle glaucoma: a meta-analysis. | 0.025828042 | 2015 | NA | NA | NA | NA | NA |
| rs4236601 | 20835238 | 858 | CAV2 | umls:C0017612 | GAD | [Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.] | 0.122367032 | 2010 | NA | 7 | 116522675 | G | A |
| rs74315330 | 18728751 | 4653 | MYOC | umls:C0017612 | BeFree | Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype. | 0.109009397 | 2008 | MYOC | 1 | 171636331 | G | A |
| rs74315336 | 15452063 | 4653 | MYOC | umls:C0017612 | BeFree | To investigate mechanism(s) by which mutations in the olfactomedin domain of myocilin (MYOC), also known as the trabecular meshwork-induced glucocorticoid response (TIGR) gene, cause autosomal dominant open-angle glaucoma, the structure and properties of wild-type (WT) MYOC protein were examined, when expressed alone or simultaneously with the Q368X or K423E disease-associated polypeptides. | 0.109009397 | 2004 | MYOC | 1 | 171636173 | T | C |
| rs7588567 | 22419738 | 344148 | NCKAP5 | umls:C0017612 | GAD | [A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.] | 0.002367032 | 2012 | NCKAP5 | 2 | 133605461 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 641 |
|---|---|
| Disease | open-angle glaucoma |
| Case | (Waiting for update.) |