| Entry |
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| Name |
Primary open angle glaucoma
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| Description |
Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients.
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| Category |
Nervous system disease; Eye disease
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| Pathway |
hsa03008 Ribosome biogenesis in eukaryotes | |
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| Gene |
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| Drug |
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| Comment |
GLC1G is a ribosome biogenesis disorder.
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| Other DBs |
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| Reference |
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| Authors |
Carbone MA, Chen Y, Hughes GA, Weinreb RN, Zabriskie NA, Zhang K, Anholt RR |
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| Title |
Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma. |
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| Journal |
PLoS One 6:e20649 (2011) |
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| Reference |
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| Authors |
Fan BJ, Wang DY, Lam DS, Pang CP |
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| Title |
Gene mapping for primary open angle glaucoma. |
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| Journal |
Clin Biochem 39:249-58 (2006) |
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| Reference |
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| Authors |
Khan AO |
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| Title |
Genetics of primary glaucoma. |
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| Journal |
Curr Opin Ophthalmol 22:347-55 (2011) |
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| Reference |
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| Authors |
Fuse N |
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| Title |
Genetic bases for glaucoma. |
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| Journal |
Tohoku J Exp Med 221:1-10 (2010) |
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| Reference |
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| Authors |
Freed EF, Bleichert F, Dutca LM, Baserga SJ |
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| Title |
When ribosomes go bad: diseases of ribosome biogenesis. |
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| Journal |
Mol Biosyst 6:481-93 (2010) |
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