| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | Biomarker | disease | BEFREE | Corneal clouding scores were higher in MPSI compared with MPSIV and MPSVI. | 30120129 | 2019 | ||||
|
0.020 | Biomarker | disease | BEFREE | A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes. | 30575621 | 2019 | ||||
|
0.010 | Biomarker | disease | BEFREE | A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes. | 30575621 | 2019 | ||||
|
0.010 | Biomarker | disease | BEFREE | A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes. | 30575621 | 2019 | ||||
|
0.010 | Biomarker | disease | BEFREE | A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes. | 30575621 | 2019 | ||||
|
0.010 | Biomarker | disease | BEFREE | In the current work we report that starting from 6 months of age, ~43% of CathAS190A /Scpep1-/- mice developed corneal clouding that eventually caused vision impairment. | 28234994 | 2017 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. | 21412975 | 2011 | ||||
|
0.010 | Biomarker | disease | BEFREE | Here, we administered an adenovirus expressing human beta-glucuronidase (AxCAhGUS) into the anterior chamber or intrastromal region of the cornea in mice with mucopolysaccharidosis type VII (B6/MPSVII), and successfully treated corneal clouding of MPSVII. | 11592832 | 2001 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | The molecular defects in the lecithin:cholesterol acyltransferase (LCAT) gene have been identified in a 52-year-old patient with classic LCAT deficiency, presenting with corneal clouding and proteinuria. | 8445342 | 1993 |