KPNA1, karyopherin subunit alpha 1, 3836

N. diseases: 22; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.300 Biomarker disease CTD_human Increased exonic de novo mutation rate in individuals with schizophrenia. 21743468 2011
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.100 GeneticVariation phenotype GWASDB Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. 20705733 2010
CUI: C0428302
Disease: Calcium level result
Calcium level result 		0.100 GeneticVariation phenotype GWASDB Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. 20705733 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 GeneticVariation disease BEFREE We confirmed the validity of our findings by analyzing independent sets of most significant disease-linked SNPs and demonstrating statistically significant KPNA1-gene expression phenotypes associated with human genotypes of CD, BD, T2D and RA populations. 18719369 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 GeneticVariation disease LHGDN SNP-guided microRNA maps (MirMaps) of 16 common human disorders identify a clinically accessible therapy reversing transcriptional aberrations of nuclear import and inflammasome pathways. 19001869 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 GeneticVariation disease BEFREE Analysis of expression profiling experiments of peripheral blood mononuclear cells (PBMC) demonstrates statistically significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn's disease (CD), Huntington's disease (HD) and rheumatoid arthritis (RA) populations. 19001869 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 GeneticVariation disease BEFREE Analysis of expression profiling experiments of peripheral blood mononuclear cells (PBMC) demonstrates statistically significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn's disease (CD), Huntington's disease (HD) and rheumatoid arthritis (RA) populations. 19001869 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 GeneticVariation disease LHGDN Analysis of expression profiling experiments of peripheral blood mononuclear cells (PBMC) demonstrates statistically significant KPNA1-, NLRP1- and NLRP3-gene expression phenotypes associated with human genotypes of Crohn's disease (CD), Huntington's disease (HD) and rheumatoid arthritis (RA) populations. 19001869 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 GeneticVariation disease BEFREE We confirmed the validity of our findings by analyzing independent sets of most significant disease-linked SNPs and demonstrating statistically significant KPNA1-gene expression phenotypes associated with human genotypes of CD, BD, T2D and RA populations. 18719369 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE Using in vitro and in vivo binding assays we identified that HIF-1α interacts with importin-α5 and importin-α7 in prostate cancer cells but only importin-α7 interacts with SEPT9_i1. 29742803 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE Using in vitro and in vivo binding assays we identified that HIF-1α interacts with importin-α5 and importin-α7 in prostate cancer cells but only importin-α7 interacts with SEPT9_i1. 29742803 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE Thus, importin α5 influences sphingosine-sensitive anxiety pathways by regulating MeCP2 nuclear import in hippocampal neurons. 30540948 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE Thus, importin α5 influences sphingosine-sensitive anxiety pathways by regulating MeCP2 nuclear import in hippocampal neurons. 30540948 2018
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		0.010 AlteredExpression group BEFREE Our study demonstrates a novel mechanism by which antiviral signaling is suppressed through degradation of KPNA1 by activated caspase-3 induced in an enteroviral infection. 28455446 2017
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 Biomarker disease BEFREE We studied the impact of simultaneously targeting two of these shuttles, importin alpha 5 (Imp α5) and importin beta 1 (Imp β1), with a cell-penetrating Nuclear Transport Modifier (NTM) in a mouse model of polymicrobial sepsis. 28628637 2017
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 Biomarker disease BEFREE We studied the impact of simultaneously targeting two of these shuttles, importin alpha 5 (Imp α5) and importin beta 1 (Imp β1), with a cell-penetrating Nuclear Transport Modifier (NTM) in a mouse model of polymicrobial sepsis. 28628637 2017
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola 		0.010 Biomarker disease BEFREE Combined with this prediction of the microRNA target, we identified importin-α5, which is a key regulator of interferon signaling following Ebola virus infection, as one putative target. 27094387 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 Biomarker disease BEFREE The first group binds IPOA5 and inhibits infection during the replication stage of HCV life cycle. 25485706 2014
CUI: C0021400
Disease: Influenza
Influenza 		0.010 Biomarker disease BEFREE Although NP binds to importin α isoforms Rch1, Qip1 and NPI-1, the role of each individual isoform during the nuclear transport of NP and replication of the influenza virus remains unknown. 23383277 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE We confirmed the validity of our findings by analyzing independent sets of most significant disease-linked SNPs and demonstrating statistically significant KPNA1-gene expression phenotypes associated with human genotypes of CD, BD, T2D and RA populations. 18719369 2008