CAPN10, calpain 10, 11132

N. diseases: 58; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0404572
Disease: Female infertility associated with anovulation
Female infertility associated with anovulation 		0.010 GeneticVariation disease BEFREE We present a haplotype-phenotype correlation study of CAPN10 haplotypes in 148 women showing ecographically detected polycystic ovaries (PCO) combined with one or more of these clinical symptoms: amenorrhea or severe oligomenorrhea, hyperandrogenism, and anovulatory infertility, as well as 93 unrelated controls. 14602801 2003
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		0.010 GeneticVariation disease BEFREE In addition, we identified several CAPN10 alleles associated to phenotypic differences observed between PCO patients, such as the presence of hypercholesterolemia (haplotype 1121, P = 0.005), presence of hyperandrogenic features (P = 0.05), and familial cancer incidence (haplotype 1111, P = 0.0005). 14602801 2003
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 GeneticVariation disease LHGDN To detect the association among calpain-10(CAPN-10) gene polymorphism, hypentension and hyperglycemia. 12137596 2002
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		0.010 GeneticVariation disease BEFREE In conclusion, the frequency of the 112/121 at-risk haplotype of CAPN10 is low among Scandinavians and we were unable to demonstrate significant associations between the CAPN10 variants and type 2 diabetes, insulin resistance, or impaired insulin secretion. 12453914 2002
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians. 11836299 2002
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 GeneticVariation disease BEFREE Calpain-10 SNP43 and SNP19 polymorphisms and colorectal cancer: a matched case-control study. 24377587 2014
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		0.020 Biomarker disease BEFREE We analyzed CAPN10 UCSNP-44, UCSNP-43, UCSNP-19, and UCSNP-63 allelic distributions in 199 patients with unrelated laryngeal cancer. 20848425 2011
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.020 Biomarker disease BEFREE We analyzed CAPN10 UCSNP-44, UCSNP-43, UCSNP-19, and UCSNP-63 allelic distributions in 199 patients with unrelated laryngeal cancer. 20848425 2011
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		0.020 GeneticVariation disease BEFREE Our objective was to examine the contribution of CAPN10 alleles to the development of laryngeal cancer. 17382509 2008
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 Biomarker disease BEFREE To search for association between the PPARgamma, calpain 10, PTPN1 genes and DR in type 2 diabetes mellitus (T2DM). 18077048 2008
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 GeneticVariation disease BEFREE In this study we aimed to evaluate the association of SNP-19,-44, and -63 polymorphisms of calpain 10 with type 2 diabetes and diabetic-related conditions, such as diabetic retinopathy, nephropathy, and neuropathy in a Turkish population. 18554168 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.020 Biomarker disease BEFREE To date, CAPN10 has been found to be extensively associated with hyperinsulinaemia and type 2 diabetes mellitus, by different groups. 17382509 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.020 AlteredExpression disease BEFREE These data indicate that skeletal muscle calpain-10 expression is not modified by insulin resistance per se and suggest that hyperinsulinemia and exercise training may modulate human skeletal muscle calpain-10 expression. 18089694 2008
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.020 GeneticVariation disease BEFREE Our objective was to examine the contribution of CAPN10 alleles to the development of laryngeal cancer. 17382509 2008
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 GeneticVariation disease BEFREE Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility. 17559371 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 Biomarker disease BEFREE In conclusion, our observations suggest that UCSNP-19 of CAPN10 may be involved in the pathogenesis of diabetes in CF. 16377260 2006
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.020 GeneticVariation disease BEFREE We describe applications of the method to simulated data and to data from a Mendelian locus (CFTR, responsible for cystic fibrosis) and from a proposed complex trait locus (calpain-10, implicated in type 2 diabetes). 15489534 2005
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 Biomarker disease BEFREE CAPN10 association with CIMT was replicated, further supporting its role as a common genetic determinant of diabetes and atherosclerosis in Hispanics. 19193380 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 Biomarker disease BEFREE CAPN10 association with CIMT was replicated, further supporting its role as a common genetic determinant of diabetes and atherosclerosis in Hispanics. 19193380 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group BEFREE Four CAPN10 SNPs were genotyped and haplotypes determined in 487 Hispanic Americans from 143 families ascertained via an index case with hypertension. 19193380 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group LHGDN These results suggested that CAPN10 gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population. 18167206 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 Biomarker group BEFREE Cysteine protease Calpain 10 (CAPN10) has been associated with T2DM, hypertension, hypercholesterolemia, increased body mass index (BMI) and polycystic ovary syndrome (PCOS), a reproductive disorder of women in which isunlin resistance seems to play a pathogenic role. 17227582 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group BEFREE These results suggested that CAPN10 gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population. 18167206 2007
CUI: C0342513
Disease: Idiopathic hirsutism
Idiopathic hirsutism 		0.030 GeneticVariation phenotype BEFREE We performed a cross-sectional study with 88 southern Brazilian hirsute patients with PCOS or idiopathic hirsutism (IH) to assess the influence of CAPN10 genetic variants on clinical and biochemical features of metabolic syndrome. 17454172 2007
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 Biomarker disease BEFREE We sought to determine whether CAPN10 influences subclinical atherosclerosis. 15793266 2005