Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
0.010 GeneticVariation disease BEFREE In addition, we report four K12 mutations in Meesmann corneal epithelial dystrophy (MCD), an autosomal dominant disorder characterized by intraepithelial microcysts and corneal epithelial fragility in which mutations in keratin 3 (K3) and K12 have recently been implicated. 9399908 1997
Entrez Id: 23531
Gene Symbol: MMD
MMD
0.010 AlteredExpression disease BEFREE The main outcomes were as follows: mean intra-scleral hypo-reflective spaces area (MIHSA) at AS-OCT; mean density and area of microcysts (MMD, MMA) at IVCM; and intra-ocular pressure (IOP). 31125179 2019
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.010 Biomarker disease BEFREE The MEF2C-SS18-positive cases arose in the oral cavity (4/5) and parotid gland (1/5) of 3 women and 2 men ranging from 21 to 80 years (mean: 46) and shared near-identical histologic features: intercalated duct-like cells with eosinophilic to clear cytoplasm and small, uniform oval nuclei, infiltrative microcysts and cords, abundant intraluminal secretions, and cellular fibromyxoid stroma. 31094920 2019
Entrez Id: 23417
Gene Symbol: MLYCD
MLYCD
0.010 Biomarker disease BEFREE Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. 18806880 2008
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.010 GeneticVariation disease BEFREE In addition, we report four K12 mutations in Meesmann corneal epithelial dystrophy (MCD), an autosomal dominant disorder characterized by intraepithelial microcysts and corneal epithelial fragility in which mutations in keratin 3 (K3) and K12 have recently been implicated. 9399908 1997
Entrez Id: 3371
Gene Symbol: TNC
TNC
0.010 AlteredExpression disease BEFREE High frequency of microcysts was associated with increased COL5A1, FN1, and TNC expression (p < 0.05, for all comparisons). 29614203 2018
Entrez Id: 7076
Gene Symbol: TIMP1
TIMP1
0.010 Biomarker disease BEFREE Alterations in the studied MMP and TIMP genes may contribute to the presence of microcysts, fissures, necrosis, and neovascularization in tendons and may thus be involved in the tendon healing process. 28902861 2017
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.010 Biomarker disease BEFREE High frequency of microcysts was associated with increased COL5A1, FN1, and TNC expression (p < 0.05, for all comparisons). 29614203 2018
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. 18806880 2008
Entrez Id: 6484
Gene Symbol: ST3GAL4
ST3GAL4
0.010 Biomarker disease BEFREE Tg26+STZ displayed enhanced (P<0.001) number of sclerotic glomeruli and microcysts vs. Tg26. 25542307 2015
Entrez Id: 359
Gene Symbol: AQP2
AQP2
0.010 Biomarker disease BEFREE The DOCA-salt rats had significantly increased cortical ADC and T2 values at weeks 6 and 8 (1.778 ± 0.051 × 10<sup>-3</sup> mm<sup>2</sup>/s vs 1.872 ± 0.058-1.917 ± 0.066 × 10<sup>-3</sup> mm<sup>2</sup>/s; 93.7 ± 4.9 ms vs 98.0 ± 2.9-100.7 ± 4.0 ms, respectively, all P < 0.05), consistent with excessively fluid-filled microcysts (aquaporin-2+). 31065896 2020
Entrez Id: 6760
Gene Symbol: SS18
SS18
0.010 Biomarker disease BEFREE The MEF2C-SS18-positive cases arose in the oral cavity (4/5) and parotid gland (1/5) of 3 women and 2 men ranging from 21 to 80 years (mean: 46) and shared near-identical histologic features: intercalated duct-like cells with eosinophilic to clear cytoplasm and small, uniform oval nuclei, infiltrative microcysts and cords, abundant intraluminal secretions, and cellular fibromyxoid stroma. 31094920 2019