PSMA5, proteasome 20S subunit alpha 5, 5686

N. diseases: 34; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.020 GeneticVariation disease BEFREE Analysis of alpha and zeta genes in 101 healthy normals and hospitalized patients with non-haematological diseases revealed a 3% incidence of alpha thalassaemia in the local Chinese population of Hong Kong. 3756105 1986
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.010 GeneticVariation disease BEFREE A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. 3942832 1986
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.010 GeneticVariation disease BEFREE Analysis of alpha and zeta genes in 101 healthy normals and hospitalized patients with non-haematological diseases revealed a 3% incidence of alpha thalassaemia in the local Chinese population of Hong Kong. 3756105 1986
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.010 GeneticVariation disease BEFREE A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. 3942832 1986
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.020 GeneticVariation disease BEFREE A non-deletion form of alpha(+)-thalassaemia (alpha alpha Th), triplicated alpha genes (alpha alpha alpha) and single zeta gene (-zeta) chromosomes were present at low frequencies (< 1%), whereas triplicated gamma gene (gamma gamma gamma) and triplicated zeta (zeta zeta zeta) arrangements were more common (1.1-16.3%). alpha 0-thalassaemia, probably introduced from Southeast Asia in the early part of this century, was observed in a number of individuals of Chinese and Chinese/Polynesian ancestry. 7672089 1995
CUI: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia 		0.020 GeneticVariation disease BEFREE A non-deletion form of alpha(+)-thalassaemia (alpha alpha Th), triplicated alpha genes (alpha alpha alpha) and single zeta gene (-zeta) chromosomes were present at low frequencies (< 1%), whereas triplicated gamma gene (gamma gamma gamma) and triplicated zeta (zeta zeta zeta) arrangements were more common (1.1-16.3%). alpha 0-thalassaemia, probably introduced from Southeast Asia in the early part of this century, was observed in a number of individuals of Chinese and Chinese/Polynesian ancestry. 7672089 1995
CUI: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia 		0.020 GeneticVariation disease BEFREE Our results show that couples presumed to be discordant heterozygotes of alpha- and beta-thalassaemia on haematological testing are at risk of having offspring with homozygous alpha-thalassaemia-1 if the zeta gene mapping of the heterozygous beta-thalassaemia partner shows co-inheritance of alpha-thalassaemia-1. 9267896 1997
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 GeneticVariation disease BEFREE Our results show that couples presumed to be discordant heterozygotes of alpha- and beta-thalassaemia on haematological testing are at risk of having offspring with homozygous alpha-thalassaemia-1 if the zeta gene mapping of the heterozygous beta-thalassaemia partner shows co-inheritance of alpha-thalassaemia-1. 9267896 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 Biomarker group BEFREE Immunoreactivity for both OGF and the zeta receptor were associated with the cytoplasm but not the nucleus in cells of each of these carcinomas. 9121309 1997
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		0.010 GeneticVariation disease BEFREE Our results show that couples presumed to be discordant heterozygotes of alpha- and beta-thalassaemia on haematological testing are at risk of having offspring with homozygous alpha-thalassaemia-1 if the zeta gene mapping of the heterozygous beta-thalassaemia partner shows co-inheritance of alpha-thalassaemia-1. 9267896 1997
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.010 GeneticVariation disease BEFREE Our results show that couples presumed to be discordant heterozygotes of alpha- and beta-thalassaemia on haematological testing are at risk of having offspring with homozygous alpha-thalassaemia-1 if the zeta gene mapping of the heterozygous beta-thalassaemia partner shows co-inheritance of alpha-thalassaemia-1. 9267896 1997
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 AlteredExpression disease BEFREE Mutations found in six of these patients corresponded to those of the third immunoreceptor tyrosine-based activation motif (ITAM) domain or the GTP/GDP binding site in TCR zetaThus, these mutations in TCR zeta mRNA could be responsible for the decreased expression of the TCR zeta protein in SLE T cells. 9802920 1998
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 AlteredExpression disease LHGDN Proteasome zeta chain, an alpha subunit of the 20S proteasome (P < 0.05) and ubiquitin carboxy-terminal hydrolase T (Isopeptidase T), a deubiquitinating enzyme (P < 0.001) were significantly increased in fetal DS compared to controls. 11771738 2001
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE We have demonstrated that primary mouse CD8(+) T lymphocytes expressing the single-chain Fv (scFv)-CD28-zeta receptor have a greater capacity to secrete Tc1 cytokines, induce T-cell proliferation, and inhibit established tumor growth and metastases in vivo. 12384413 2002
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE We have demonstrated that primary mouse CD8(+) T lymphocytes expressing the single-chain Fv (scFv)-CD28-zeta receptor have a greater capacity to secrete Tc1 cytokines, induce T-cell proliferation, and inhibit established tumor growth and metastases in vivo. 12384413 2002
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 AlteredExpression disease BEFREE It is also shown that in the majority of patients with systemic lupus erythematosus (SLE), who are known to express decreased levels of T cell receptor (TCR) zeta chain and mRNA, the 80-kDa Elf-1 protein does not undergo proper post-transcriptional modification, which results in low levels of the 98-kDa protein, lack of Elf-binding to the TCR zeta promoter, and decreased gene transcription. 12727645 2003
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 Biomarker disease BEFREE Thus, the lower stability of zetamRNA/as-3'UTR, which is predominant in SLE T cells, may be responsible for the reduced expression of the TCR/CD3 complex, including zeta protein, in SLE T cells. 12928398 2003
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.300 Biomarker group CTD_human Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency. 15308739 2004
CUI: C4505456
Disease: HIV Coinfection
HIV Coinfection 		0.300 Biomarker disease CTD_human Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency. 15308739 2004
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 Biomarker disease BEFREE Thus, the lower stability of zeta mRNA/exon 7(-) might also be responsible for the reduced expression of the TCR/CD3 complex, including zeta protein, in SLE T cells. 15749888 2005
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.050 Biomarker disease BEFREE Recently, we reported that in SLE T cells, the residual TCR zeta protein is predominantly derived from an alternatively spliced form that undergoes splice deletion of 562 nt (from 672 to 1233 bases) within the 3' untranslated region (UTR) of TCR zeta mRNA. 17114503 2006
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Our observations indicated that LRRC4 may be a negative regulator of the RPTP-zeta receptor, and contribute to suppressing the invasion ability of gliomas cells. 16941076 2006
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008