Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 20179738 2010
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND Null mutations in LTBP2 cause primary congenital glaucoma. 19361779 2009
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. 19656777 2009
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 Biomarker disease GENOMICS_ENGLAND Null mutations in LTBP2 cause primary congenital glaucoma. 19361779 2009
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 Biomarker disease CTD_human
CUI: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		0.600 CausalMutation disease CLINVAR
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 CausalMutation disease CLINVAR
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		0.600 Biomarker disease CTD_human
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.520 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: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.520 Biomarker disease BEFREE Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). 22539340 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.520 GermlineCausalMutation disease ORPHANET Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). 22539340 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.520 Biomarker disease CTD_human
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 GeneticVariation disease BEFREE Cytochrome P4501B1 (CYP1B1) and latent transforming growth factor-beta-binding protein 2 (LTBP2) are the most commonly mutated genes in PCG. 28384041 2017
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 Biomarker disease BEFREE The results showed that no deleterious mutations were found in coding regions of LTBP2 in patients with PCG, suggesting that it is not a causal gene for PCG in the Han Chinese population. 27293371 2016
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 GeneticVariation disease BEFREE WES identified potentially causative novel mutations in the latent transforming growth factor beta binding protein 2 (LTBP2) gene in two PCG families. 27409795 2016
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 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: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 GeneticVariation disease BEFREE LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma. 22924778 2013
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 GeneticVariation disease BEFREE Microscopy was performed on the skin of a patient with PEX syndrome whose condition developed into PEX glaucoma during the course of the study and on the skin of her son previously identified with PCG who harbored the same LTBP2 mutation. 23401661 2013
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 GeneticVariation disease BEFREE We observed one intronic single nucleotide polymorphism (rs3742793) between exons 6 and 7 in the LTBP2 gene in 18 patients with PCG. 23378721 2013
CUI: C3553785
Disease: WEILL-MARCHESANI SYNDROME 3
WEILL-MARCHESANI SYNDROME 3 		0.500 GeneticVariation disease UNIPROT LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 22539340 2012
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 GeneticVariation disease BEFREE Genomic DNA was collected from 54 unrelated Saudi PCG families (74 patients) who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in CYP1B1 and LTBP2 by sequencing. 22128238 2011
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 Biomarker disease GENOMICS_ENGLAND LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. 20179738 2010
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		0.500 AlteredExpression disease BEFREE Subsequently, LTBP2 expression was shown in human eyes, including the trabecular meshwork and ciliary processes that are thought to be relevant to the etiology of PCG. 19656777 2009