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: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 GeneticVariation disease BEFREE Our study provides evidence that SNP43 (G/A) in the CAPN10 gene increases the risk of cognitive impairment in SVD patients. 30014550 2018
CUI: C1860405
Disease: Snowflake vitreoretinal degeneration
Snowflake vitreoretinal degeneration 		0.010 GeneticVariation disease BEFREE Our study provides evidence that SNP43 (G/A) in the CAPN10 gene increases the risk of cognitive impairment in SVD patients. 30014550 2018
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases 		0.010 GeneticVariation group BEFREE The SNP43 (G/A) polymorphism in CAPN10 gene confers an increased risk of cognitive impairment in cerebral small vessel disease. 30014550 2018
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.010 GeneticVariation disease BEFREE The purpose of this study is to elucidate correlation between Calpain-10 single-nucleotide polymorphisms (SNPs) and the incidence of OSAHS followed by ischemic stroke (IS). 28422847 2017
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 AlteredExpression disease BEFREE Calpain-10 protein expression was significantly increased in the OSAHS + IS and OSAHS groups compared with the control group. 28422847 2017
CUI: C2748060
Disease: Hypopnea syndrome
Hypopnea syndrome 		0.010 GeneticVariation disease BEFREE Correlation between Calpain-10 single-nucleotide polymorphisms and obstructive sleep apnea/hypopnoea syndrome with ischemic stroke in a Chinese population: A population-based study. 28422847 2017
CUI: C4285910
Disease: Obstructive sleep apnea hypopnea syndrome
Obstructive sleep apnea hypopnea syndrome 		0.010 AlteredExpression disease BEFREE Calpain-10 protein expression was significantly increased in the OSAHS + IS and OSAHS groups compared with the control group. 28422847 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Based on emerging evidence, the nonsense variation in GPBAR1 and the missense variation in CAPN10 are considered as causally related to our patient's phenotype, that is, obesity and delayed development, respectively. 27654142 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE Based on emerging evidence, the nonsense variation in GPBAR1 and the missense variation in CAPN10 are considered as causally related to our patient's phenotype, that is, obesity and delayed development, respectively. 27654142 2016
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 AlteredExpression disease BEFREE At the tissue level, the high level expression of calpain 10 protein was significantly associated with longer patient survival (month) of esophageal squamous cell carcinoma compared to the patients with low level of calpain 10 expression (37.73 ± 16.33 vs 12.62 ± 12.44, P = 0.032). 23687414 2013
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 Biomarker disease BEFREE These findings provided some evidence that CAPN10 gene may play an important role in the pathogenesis of IFG/IGT in EH patients. 20406624 2010
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		0.010 GeneticVariation disease BEFREE The current study of PAARTNERS SCZ and schizoaffective disorder cases (N=820) examined single nucleotide polymorphisms (SNPs) within select T2D candidate genes including transcription factor 7-like 2 (TCF7L2), calpain 10 (CAPN10), and ectoenzyme nucleotide pyrophosphatase phosphodiesterase 1 (ENNP1) for association with prevalent T2D. 19643578 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 GeneticVariation disease BEFREE The current study of PAARTNERS SCZ and schizoaffective disorder cases (N=820) examined single nucleotide polymorphisms (SNPs) within select T2D candidate genes including transcription factor 7-like 2 (TCF7L2), calpain 10 (CAPN10), and ectoenzyme nucleotide pyrophosphatase phosphodiesterase 1 (ENNP1) for association with prevalent T2D. 19643578 2009
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		0.010 GeneticVariation disease BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 GeneticVariation disease BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.010 GeneticVariation disease BEFREE The study involved a monogenic analysis of CYP21A2 in patients (375 nonclassical 21OHD [NC21OHD] children; 306 hyperandrogenic 21OHD carriers, n = 306) and a polygenic association study (CAPN10-UCSNP44, PON1-108, TNFR2-M196R, IGF2-ApaI and IRS1-G972R polymorphisms) of 170 hyperandrogenic carriers plus 277 family members (control groups). 19039234 2009
CUI: C0023055
Disease: Laryngeal neoplasm
Laryngeal neoplasm 		0.010 GeneticVariation disease LHGDN CAPN10 alleles modify laryngeal cancer risk in the Spanish population. 17382509 2008
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 Biomarker group BEFREE The calpain 10 gene (CAPN10) has been associated with type 2 diabetes (T2DM), a complex metabolic disorder with increased risk of cardiovascular disease. 18698425 2008
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 GeneticVariation group 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 GeneticVariation group LHGDN Identification of a protective haplogenotype within CAPN10 gene influencing colorectal cancer susceptibility. 17559371 2007
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 GeneticVariation disease BEFREE Taken together, our results indicate a recessive model for the effect of CAPN10 variant UCSNP-44 influencing the risk of CRC and suggest a novel genetic link between T2DM and colon carcinoma. 17559371 2007
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 Biomarker disease BEFREE Association of the diabetes gene calpain-10 with subclinical atherosclerosis: the Mexican-American Coronary Artery Disease Study. 15793266 2005
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 Biomarker disease BEFREE Association of the diabetes gene calpain-10 with subclinical atherosclerosis: the Mexican-American Coronary Artery Disease Study. 15793266 2005
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 Biomarker disease BEFREE Association of the diabetes gene calpain-10 with subclinical atherosclerosis: the Mexican-American Coronary Artery Disease Study. 15793266 2005
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		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