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 GENOMICS_ENGLAND Detection of SERPINB7 mutation can distinguish Nagashima-type palmoplantar keratoderma from other keratodermas with palmoplantar lesions. 28211129 2017
CUI: C3810072
Disease: Palmoplantar keratoderma Nagashima type
Palmoplantar keratoderma Nagashima type 		0.700 Biomarker disease CTD_human
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 Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation. 31706940 2019
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
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 GeneticVariation disease BEFREE Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the last exon of SERPINB7. 29106929 2018
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 Biomarker disease GENOMICS_ENGLAND
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 GeneticVariation disease BEFREE Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. 27666198 2016
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 Biomarker disease HPO
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: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris 		0.100 Biomarker disease HPO
CUI: C3670629
Disease: Orthokeratotic hyperkeratosis
Orthokeratotic hyperkeratosis 		0.100 Biomarker disease HPO
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 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 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 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 BEFREE However, the results showed no association between these gene variants and sex of the patients.These results indicate that megsin gene variants may play a role in the severity, development, and/or progression of IgAN in Northwest Chinese population. 26871801 2016