DPYSL5, dihydropyrimidinase like 5, 56896

N. diseases: 57; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
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: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.100 GeneticVariation phenotype GWASCAT A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. 22885924 2012
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.100 GeneticVariation phenotype GWASDB Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. 22885924 2012
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASDB A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.050 GeneticVariation disease BEFREE Anticollapsin-responsive mediator protein 5 (CRMP-5) IgG is an antibody generally associated with small-cell lung cancer, which is known to cause paraneoplastic neurological syndromes, including encephalitis, myelitis and neuropathy. 31118171 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.050 Biomarker disease BEFREE Coexistence of Lambert-Eaton myasthenic syndrome and autoimmune encephalitis with anti-CRMP5/CV2 and anti-GABAB receptor antibodies in small cell lung cancer: A case report. 29742721 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.050 GeneticVariation disease BEFREE One hundred five patients with CRMP5-IgG neuropathy (88% smokers; 69% having cancer, most commonly small cell lung cancer [75%]) were identified and compared to 51 patients with ANNA1-IgG neuropathy, 27 with coexisting CRMP5-IgG. 29222126 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.050 Biomarker disease BEFREE Collapsin response mediator protein 5 (CRMP5) antibodies are often associated with thymoma or small cell lung cancer and paraneoplastic syndromes such as limbic encephalitis (LE). 19151024 2009
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.050 Biomarker disease BEFREE These results indicate that the mechanisms leading to CRMP5 autoimmunization are different in SCLC and thymoma. 16519949 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE Patients with CRMP5 had painful axonal polyradiculoneuropathy (65%), mostly asymmetric onset (84%), with neuropathy predating cancer diagnosis by 185 days (range 60-540 days). 29222126 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE Patients with CRMP5 had painful axonal polyradiculoneuropathy (65%), mostly asymmetric onset (84%), with neuropathy predating cancer diagnosis by 185 days (range 60-540 days). 29222126 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE CRMP5 expression has been reported to serve as a biomarker for high-grade lung neuroendocrine carcinomas; however, its functional roles have not been examined in any setting of cancer pathophysiology. 26122847 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE CRMP5 expression has been reported to serve as a biomarker for high-grade lung neuroendocrine carcinomas; however, its functional roles have not been examined in any setting of cancer pathophysiology. 26122847 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.020 Biomarker group BEFREE Neuro-ophthalmic manifestations and outcomes of CRMP5 autoimmunity, coexisting neural autoantibody presence and paraneoplastic associations, and the impact of immunosuppressant therapy. 31676123 2020
CUI: C0030353
Disease: Papilledema
Papilledema 		0.020 Biomarker disease BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
CUI: C2930835
Disease: Optic Disc Edema
Optic Disc Edema 		0.020 Biomarker disease BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.020 Biomarker group BEFREE Their phenotypes were compared to cases of coexisting collapsin response-mediator protein-5 (CRMP5)-IgG or anti-neuronal nuclear antibody type 1 (ANNA1-IgG) and CRMP5-IgG autoimmunity. 31624089 2019
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.020 GeneticVariation disease BEFREE Anticollapsin-responsive mediator protein 5 (CRMP-5) IgG is an antibody generally associated with small-cell lung cancer, which is known to cause paraneoplastic neurological syndromes, including encephalitis, myelitis and neuropathy. 31118171 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.020 GeneticVariation group BEFREE Anticollapsin-responsive mediator protein 5 (CRMP-5) IgG is an antibody generally associated with small-cell lung cancer, which is known to cause paraneoplastic neurological syndromes, including encephalitis, myelitis and neuropathy. 31118171 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.020 Biomarker group BEFREE Compared to ANNA1 alone, CRMP5 neuropathy has a higher prevalence of pain (79% vs 46%, <i>p</i> = 0.008), asymmetric polyradiculoneuropathy (54% vs 12%, <i>p</i> < 0.001), and inflammatory spinal fluids (elevated CSF protein or nucleated cell count 92% vs 60%, <i>p</i> = 0.022). 29222126 2018