Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 GeneticVariation disease BEFREE Missense mutations in the mitochondrial seryl-tRNA synthetase gene, SARS2, have been identified in HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis). 27279129 2016
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 Biomarker disease GENOMICS_ENGLAND Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome. 24034276 2013
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 GeneticVariation disease BEFREE Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome. 24034276 2013
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 Biomarker disease GENOMICS_ENGLAND Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome. 24034276 2013
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 GermlineCausalMutation disease ORPHANET Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 21255763 2011
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 GeneticVariation disease UNIPROT Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 21255763 2011
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 21255763 2011
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 Biomarker disease CTD_human
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
0.720 CausalMutation disease CLINVAR
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.110 GeneticVariation disease BEFREE Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 21255763 2011
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.110 GeneticVariation disease BEFREE Infection of humans with the severe acute respiratory syndrome coronavirus (SARS-CoV) results in substantial morbidity and mortality, with death resulting primarily from respiratory failure. 18495771 2008
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.110 Biomarker disease HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.110 Biomarker disease HPO
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome
0.100 GeneticVariation disease BEFREE We have reported on aristeromycin (1) and 6'-fluorinated-aristeromycin analogues (2), which are active against RNA viruses such as Middle East respiratory syndrome coronavirus (MERS-CoV), severe acute respiratory syndrome coronavirus (SARS-CoV), Zika virus (ZIKV), and Chikungunya virus (CHIKV). 31841728 2020
CUI: C3694279
Disease: Middle East Respiratory Syndrome
Middle East Respiratory Syndrome
0.100 Biomarker disease BEFREE We have reported on aristeromycin (1) and 6'-fluorinated-aristeromycin analogues (2), which are active against RNA viruses such as Middle East respiratory syndrome coronavirus (MERS-CoV), severe acute respiratory syndrome coronavirus (SARS-CoV), Zika virus (ZIKV), and Chikungunya virus (CHIKV). 31841728 2020
CUI: C0021400
Disease: Influenza
Influenza
0.100 Biomarker disease BEFREE In many instances these outbreaks have been newly emerging (SARS coronavirus), re-emerging (Ebola virus, Zika virus) or zoonotic (avian influenza H5N1) virus infections. 31771760 2019
CUI: C0021400
Disease: Influenza
Influenza
0.100 GeneticVariation disease BEFREE Annual excess rates of mortality or hospitalization associated with influenza in the older population were estimated for the pre-SARS (reference period), post-SARS and post-pandemic period, respectively. 30764779 2019
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.100 Biomarker group BEFREE In many instances these outbreaks have been newly emerging (SARS coronavirus), re-emerging (Ebola virus, Zika virus) or zoonotic (avian influenza H5N1) virus infections. 31771760 2019
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola
0.100 Biomarker disease BEFREE Like SARS previously and Zika recently, the Ebola crisis in 2015 showed how vulnerable the world is to these epidemics, with over 11,000 people dying in the outbreak. 29410084 2019
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola
0.100 Biomarker disease BEFREE In many instances these outbreaks have been newly emerging (SARS coronavirus), re-emerging (Ebola virus, Zika virus) or zoonotic (avian influenza H5N1) virus infections. 31771760 2019
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome
0.100 GeneticVariation disease BEFREE These emerging infections, including severe acute respiratory syndrome coronavirus (SARS-CoV), Middle East respiratory syndrome coronavirus (MERS-CoV) and the pandemic influenza A(H1N1) and avian influenza (AI) viruses, have seriously threatened global health and the economy. 30985968 2019
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome
0.100 Biomarker disease BEFREE Bats are the natural reservoirs of severe acute respiratory syndrome coronavirus (SARS-CoV) which caused the outbreak of human SARS in 2002-2003. 30735813 2019
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome
0.100 Biomarker disease BEFREE The recent emergence of severe acute respiratory syndrome-associated coronavirus (SARS-CoV) and Middle East respiratory syndrome coronavirus (MERS-CoV) in humans, with evidence that these viruses may have their ancestry in bats, highlights the importance of virus surveillance in bat populations. 30426315 2019
CUI: C1175175
Disease: Severe Acute Respiratory Syndrome
Severe Acute Respiratory Syndrome
0.100 GeneticVariation disease BEFREE Newly emerging viruses, such as severe acute respiratory syndrome coronavirus (SARS-CoV), Middle Eastern respiratory syndrome CoVs (MERS-CoV), and H7N9, cause fatal acute lung injury (ALI) by driving hypercytokinemia and aggressive inflammation through mechanisms that remain elusive. 30830861 2019