SERPINB7, serpin family B member 7, 8710

N. diseases: 16; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810072
Disease: Palmoplantar keratoderma Nagashima type
Palmoplantar keratoderma Nagashima type 		0.700 CausalMutation disease CLINVAR
CUI: C3810072
Disease: Palmoplantar keratoderma Nagashima type
Palmoplantar keratoderma Nagashima type 		0.700 Biomarker disease CTD_human
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 Biomarker disease GENOMICS_ENGLAND
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 Biomarker disease HPO
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		0.100 Biomarker phenotype HPO
CUI: C0221270
Disease: Acanthosis
Acanthosis 		0.100 Biomarker phenotype HPO
CUI: C0333525
Disease: Maceration
Maceration 		0.100 Biomarker phenotype HPO
CUI: C0558143
Disease: Macerated skin (finding)
Macerated skin (finding) 		0.100 Biomarker phenotype HPO
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris 		0.100 Biomarker disease HPO
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis 		0.100 Biomarker phenotype HPO
CUI: C3670629
Disease: Orthokeratotic hyperkeratosis
Orthokeratotic hyperkeratosis 		0.100 Biomarker disease HPO
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 AlteredExpression disease BEFREE A mesangium-predominant gene, megsin, is a new serpin upregulated in IgA nephropathy. 9710452 1998
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease BEFREE We performed an association study of patients with IgA nephropathy and matching control subjects to test whether the G38A polymorphism in the uteroglobin gene, the C2093T polymorphism in the megsin gene, or the angiotensin-converting enzyme (ACE) insertion/deletion polymorphism is associated with IgA nephropathy or rate of disease progression in patients with IgA nephropathy. 10977777 2000
CUI: C0027697
Disease: Nephritis
Nephritis 		0.200 Biomarker disease RGD In order to investigate megsin protein expression in anti-Thy1 nephritis rats, we raised antibody against rat megsin-specific synthetic peptide, with which immunohistochemical studies were performed. 11473647 2001
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 AlteredExpression disease BEFREE Megsin (SERPINB7) is an important candidate gene, predominantly expressed in glomerular mesangium and upregulated in IgAN. 15213261 2004
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease LHGDN A family-based association study of megsin A23167G polymorphism with susceptibility and progression of IgA nephropathy in a Chinese population. 16550745 2006
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease BEFREE This provides further evidence for the involvement of genetic variations of MEGSIN in the pathogenesis of IgAN. 16431886 2006
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease LHGDN This provides further evidence for the involvement of genetic variations of MEGSIN in the pathogenesis of IgAN. 16431886 2006
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease LHGDN In the present study, we evaluated the influence of the C2093T and C2180T polymorphism within the 3' untranslated region (3'UTR) of megsin gene and its haplotypes on the development and progression of Korean IgAN patients. 18793525 2008
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease BEFREE In the present study, we evaluated the influence of the C2093T and C2180T polymorphism within the 3' untranslated region (3'UTR) of megsin gene and its haplotypes on the development and progression of Korean IgAN patients. 18793525 2008
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.080 GeneticVariation disease LHGDN The influence of two megsin polymorphisms on the progression of IgA nephropathy. 18498720 2008
CUI: C3810072
Disease: Palmoplantar keratoderma Nagashima type
Palmoplantar keratoderma Nagashima type 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. 24207119 2013
CUI: C3810072
Disease: Palmoplantar keratoderma Nagashima type
Palmoplantar keratoderma Nagashima type 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. 24207119 2013
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 GeneticVariation disease BEFREE Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. 24773080 2014
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 GeneticVariation disease BEFREE Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries.In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations. 25029323 2014