PEPD, peptidase D, 5184

N. diseases: 113; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 GeneticVariation disease BEFREE With the exception of four SNPs (CMIP rs16955379, PEPD rs3786897, PSMD6 rs831571, ZFAND3 rs9470794), the other SNPs had the same direction of effect (odds ratio [OR]>1.0) as in the original reports, especially GLIS3 rs7041847 and KCNK16 rs1535500 were significantly associated with type 2 diabetes (rs1535500: p=0.005, OR=1.224, 95% CI 1.062-1.409; rs7041847: p=0.035, OR=1.118, 95% CI 1.070-1.388). 31145772 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 GeneticVariation disease GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 GeneticVariation disease BEFREE The association between the PEPD genetic variant and the risk of T2D was modulated by n-3 fatty acids. 26087900 2015
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 Biomarker disease CTD_human The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. 22158537 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 Biomarker disease BEFREE The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. 22158537 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 GeneticVariation disease GWASDB The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. 22158537 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.430 GeneticVariation disease GWASCAT The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. 22158537 2011
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.400 Biomarker phenotype CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		0.400 Biomarker phenotype CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.400 Biomarker phenotype CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.400 Biomarker phenotype HPO
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		0.400 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.400 Biomarker phenotype HPO
CUI: C0353676
Disease: Organophosphorus Poisoning
Organophosphorus Poisoning 		0.300 Therapeutic disease CTD_human Persistent and high-level expression of human liver prolidase in vivo in mice using adenovirus. 22982776 2013
CUI: C0700359
Disease: Organophosphate poisoning
Organophosphate poisoning 		0.300 Therapeutic disease CTD_human Persistent and high-level expression of human liver prolidase in vivo in mice using adenovirus. 22982776 2013
CUI: C3494247
Disease: Organothiophosphonate Poisoning
Organothiophosphonate Poisoning 		0.300 Therapeutic disease CTD_human Persistent and high-level expression of human liver prolidase in vivo in mice using adenovirus. 22982776 2013
CUI: C3494248
Disease: Organothiophosphate Poisoning
Organothiophosphate Poisoning 		0.300 Therapeutic disease CTD_human Persistent and high-level expression of human liver prolidase in vivo in mice using adenovirus. 22982776 2013
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.300 Biomarker group CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C3714514
Disease: Infection
Infection 		0.300 Biomarker group CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.200 Biomarker disease MGD
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.200 Biomarker disease MGD
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE Among the novel potential susceptibility genes is PEPD, a gene involved in proline metabolism, which is associated with a Mendelian disorder characterized by developmental delay and cognitive deficits. 26198764 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 AlteredExpression disease LHGDN Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. 17570078 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO