Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 AlteredExpression disease BEFREE Similarly the antioxidant enzymes like SOD and CAT were increased while MDA levels were decreased significantly, at the same time TNF-α and IL-6 levels were decreased and anti-inflammatory IL-10 levels were increased significantly in MECD treated groups. 29660650 2018
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.010 AlteredExpression disease BEFREE Similarly the antioxidant enzymes like SOD and CAT were increased while MDA levels were decreased significantly, at the same time TNF-α and IL-6 levels were decreased and anti-inflammatory IL-10 levels were increased significantly in MECD treated groups. 29660650 2018
Entrez Id: 847
Gene Symbol: CAT
CAT
0.010 AlteredExpression disease BEFREE Similarly the antioxidant enzymes like SOD and CAT were increased while MDA levels were decreased significantly, at the same time TNF-α and IL-6 levels were decreased and anti-inflammatory IL-10 levels were increased significantly in MECD treated groups. 29660650 2018
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: 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: 6398
Gene Symbol: SECTM1
SECTM1
0.030 GeneticVariation disease BEFREE Comparative studies with well established keratin disorders of other human epithelia underscore the pathogenic relevance of K3 and K12 gene mutations in Meesmann's epithelial corneal dystrophy. 12084738 2002
Entrez Id: 6398
Gene Symbol: SECTM1
SECTM1
0.030 GeneticVariation disease BEFREE To study a kindred with Meesmann's corneal dystrophy (MCD) to determine if a mutation within the cornea specific K3 or K12 genes is responsible for the disease phenotype. 10781519 2000
Entrez Id: 6398
Gene Symbol: SECTM1
SECTM1
0.030 GeneticVariation disease BEFREE Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.100 Biomarker disease HPO
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease BEFREE Meesmann epithelial corneal dystrophy (MECD) is a rare autosomal dominant disorder caused by dominant-negative mutations within the KRT3 or KRT12 genes, which encode the cytoskeletal protein keratins K3 and K12, respectively. 26758872 2016
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease BEFREE In addition, we report a variant of uncertain significance in KRT3 in an individual with MECD. 26788030 2015
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease BEFREE To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two exons of the keratin-12 gene (KRT12). 23569037 2013
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease BEFREE Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease UNIPROT Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 Biomarker disease GENOMICS_ENGLAND Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. 16227835 2005
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 Biomarker disease BEFREE Mutational analysis of domains 1A and 2B of the keratin 3 (K3) and keratin 12 (K12) genes from two patients with Meesmann's corneal dystrophy was performed by polymerase chain reaction amplification and direct sequencing. 15148206 2004
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease BEFREE The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12. 12084738 2002
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GermlineCausalMutation disease ORPHANET Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 GeneticVariation disease UNIPROT Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. 9171831 1997
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 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: 3850
Gene Symbol: KRT3
KRT3
0.670 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3850
Gene Symbol: KRT3
KRT3
0.670 Biomarker disease CTD_human
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
0.700 GeneticVariation disease BEFREE We identified a heterozygous genetic mutation (c.394 C>G, p.L132V) in the KRT12 gene in six Japanese patients with inherited Meesmann corneal dystrophy. 30535821 2019
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
0.700 GeneticVariation disease BEFREE Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. 26758872 2016
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
0.700 GeneticVariation disease BEFREE We present a novel KRT12 mutation, representing the first de novo mutation and the first indel in KRT12 associated with MECD. 26788030 2015