ACP1, acid phosphatase 1, 52

N. diseases: 107; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE Replication of rs300774, a genetic biomarker near ACP1, associated with suicide attempts in patients with schizophrenia: Relation to brain cholesterol biosynthesis. 28668716 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease BEFREE Risk of type 1 diabetes in childhood and maternal age at delivery, interaction with ACP1 and sex. 15586390 2005
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease BEFREE In this article, we confirm the positive association of acid phosphatase locus 1 (ACP1)*A/adenosine deaminase locus 1 (ADA1)*2 gametic type with type 1 diabetes (T1D) previously reported and show a negative correlation between the frequency of this gametic type with past malarial morbidity in Sardinia. 20805743 2010
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease BEFREE In a registry-based group of 525 recent-onset IDDM patients <40 years old we investigated the possible interactions of a CTLA-4 gene A-to-G transition polymorphism with age at clinical disease onset and with the presence or absence of established genetic (HLA-DQ, INS VNTR) and immune disease markers (autoantibodies against islet cell cytoplasm (ICA); insulin (IAA); glutamate decarboxylase (GAD65-Ab); IA-2 protein tyrosine phosphatase (IA-2-Ab)) determined within the first week of insulin treatment.In new-onset IDDM patients. 9353155 1997
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease BEFREE Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner. 11912546 2002
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease BEFREE The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 gene (PTPN22) confers susceptibility to type 1 diabetes (T1D) and other autoimmune diseases. 20510318 2010
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease BEFREE Type 1 diabetes mellitus. Comparison between the association with PTPN22 genotype and the association with ACP1-ADA1 joint genotype. 25125338 2014
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Exome-wide association study of plasma lipids in >300,000 individuals. 29083408 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 GeneticVariation group BEFREE We conclude that SHP-2 is an important cellular PTPase that is mutated in myeloid malignancies. 14644997 2004
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 GeneticVariation disease BEFREE We tested whether variation in ACP1 is associated with type 2 diabetes-related traits in 1035 individuals in 339 Mexican-American families of probands with or without a previous diagnosis of gestational diabetes mellitus (GDM). 19622628 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation disease BEFREE Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. 17339163 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation disease BEFREE (Nature Genetics, 29:465-468) have recently shown that gain-of-function mutations in the gene PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) cause Noonan syndrome in roughly half of patients that they examined. 12161469 2002
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation disease BEFREE Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615 2004
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.050 GeneticVariation disease BEFREE This review summarizes PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutations and genotype-phenotype correlations in Noonan syndrome (NS) and LEOPARD syndrome (LS). 16208280 2005
CUI: C0028754
Disease: Obesity
Obesity 		0.050 GeneticVariation disease BEFREE Low activity variants of ACP1 also show a positive association with family history of obesity, supporting the hypothesis of an enhancing action of these variants on expressivity of obesity. 1742941 1992
CUI: C0028754
Disease: Obesity
Obesity 		0.050 GeneticVariation disease BEFREE ACP1 genotype, glutathione reductase activity, and riboflavin uptake affect cardiovascular risk in the obese. 19570551 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.040 GeneticVariation group BEFREE The red cell acid phosphatease (ACP1) gene, which encodes a low molecular weight phosphotyrosine phosphatase (LMW-PTP), has been suggested as a common genetic factor of autoimmunity. 22428720 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.040 GeneticVariation group BEFREE The red cell acid phosphatase (ACP1) gene, which encodes a low-molecular-weight phosphotyrosine phosphatase, has been suggested as a common genetic factor of autoimmunity. 22064183 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.040 GeneticVariation group BEFREE The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 gene (PTPN22) confers susceptibility to type 1 diabetes (T1D) and other autoimmune diseases. 20510318 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.040 GeneticVariation group BEFREE Univariate analysis showed that the cumulative risk of development of diabetes within 5 years varied according to age, relationship to the proband, positivity for IAA, IA-2A and GADA, number and combination of islet antibodies, HLA class II genotype, baseline glucose tolerance, and first-phase insulin secretion, but not gender or incidence of childhood type 1 diabetes in the background population. 16514546 2006
CUI: C0003076
Disease: Aniridia
Aniridia 		0.030 GeneticVariation disease BEFREE We have excluded linkage (zeta less than -2 at theta less than 0.18) between the aniridia and the chromosome 2p25 marker D2S1 (linked to ACP1). 2575483 1989
CUI: C0004096
Disease: Asthma
Asthma 		0.030 GeneticVariation disease BEFREE The analysis of pairwise gametic type distribution for ACP1, ADA and MN polymorphisms has shown that the pattern of differences between bronchial asthma and controls is opposite to that observed between CD and controls. 16224193 2005
CUI: C0004096
Disease: Asthma
Asthma 		0.030 GeneticVariation disease BEFREE Notably, genetic interaction between <i>RhoA</i> and <i>SHP2</i> indicated that RhoA inactivation and <i>SHP2</i> deletion synergistically attenuated the allergen-induced eosinophil infiltration into lungs and airway hyperreactivity, whereas overexpression of active RhoA robustly restored the <i>SHP2</i> deletion-resultant attenuation of allergen-induced eosinophil recruitment into lungs and airway hyperreactivity as well. 31361966 2019