Disease: Glaucoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease BEFREE In the present review, 22 loci of glaucoma are presented, including the relevant genes (myocilin, interleukin 20 receptor subunit B, optineurin, ankyrin repeat‑ and SOCS box‑containing protein 10, WD repeat‑containing protein 36, EGF‑containing fibulin‑like extracellular matrix protein 1, neurotrophin 4, TANK‑binding kinase 1, cytochrome P450 subfamily I polypeptide 1, latent transforming growth factor β binding protein 2 and TEK tyrosine kinase endothelial) and 74 other genes (including toll‑like receptor 4, sine oculis homeobox Drosophila homolog of 1, doublecortin‑like kinase 1, RE repeats‑encoding gene, retinitis pigmentosa GTPase regulator‑interacting protein, lysyl oxidase‑like protein 1, heat‑shock 70‑kDa protein 1A, baculoviral IAP repeat‑containing protein 6, 5,10‑methylenetetrahydrofolate reductase and nitric oxide synthase 3 and nanophthalmos 1) that are more closely associated with glaucoma. 29845210 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 GeneticVariation disease BEFREE Mutations in LTBP2 are known to cause the Weill-Marchesani syndrome and a Weill-Marchesani-like syndrome, which include glaucoma in their clinical presentation. 30380740 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease BEFREE This background prompted us to further query interactions among some molecules and pathways thought to be important in glaucoma etiology, with emphasis on oxidative stress and LTBP2. 29908281 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease CTD_human A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). 27149523 2016
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 GeneticVariation disease BEFREE A role for microfibrils in glaucoma is suggested by identification of risk alleles in LOXL1 for exfoliation glaucoma and mutations in LTBP2 for primary congenital glaucoma, both of which are microfibril-associated genes. 24521159 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease BEFREE Ltbp2(-/-) mice survived to adulthood but developed lens luxation caused by compromised ciliary zonule formation without a typical phenotype related to glaucoma, suggesting that LTBP-2 deficiency primarily causes lens dislocation but not glaucoma. 24908666 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 GeneticVariation disease BEFREE Some LTBP2 sequence variations can contribute to the etiology of POAG and PEX glaucoma syndrome. 23401661 2013
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 GeneticVariation disease BEFREE In 2009, patients diagnosed with congenital/infantile glaucoma were found to have recessive mutations in a second gene, LTBP2, with a phenotypic spectrum that includes primary megalocornea, spherophakia with ectopia lentis, and lens-related glaucoma. 21730848 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease BEFREE A second gene, LTBP2, was recently reported in association with a syndrome, in which glaucoma is secondary to lens dislocation. 21081970 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease CTD_human Null mutations in LTBP2 cause primary congenital glaucoma. 19361779 2009
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.480 Biomarker disease HPO