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: C0015695
Disease: Fatty Liver
Fatty Liver 		0.300 Biomarker disease CTD_human Characterization of chemically induced liver injuries using gene co-expression modules. 25226513 2014
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.300 Biomarker disease CTD_human Characterization of chemically induced liver injuries using gene co-expression modules. 25226513 2014
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
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic 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: 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: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
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: 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 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: 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: 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: 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: 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: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.010 Biomarker disease BEFREE On the other hand, increased ubiquitin B mRNA expression followed by significant downregulation of proteasome subunits; 26 S proteasome non-ATPase regulatory subunit 1, and proteasome subunit alpha-type 5 was found in pseudoexfoliation syndrome (PEXS) individuals. 30738879 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE Our results show, for the first time, that PSMA5 promotes the tumorigenic process of PCa and is linked to bortezomib resistance. 30807553 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE Our results show, for the first time, that PSMA5 promotes the tumorigenic process of PCa and is linked to bortezomib resistance. 30807553 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.010 AlteredExpression disease BEFREE Moreover, only PSMA6 and PSMA5 were not overexpressed in colorectal and kidney cancer, respectively. 27966459 2017