Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 Biomarker disease BEFREE Thus, our results demonstrate a role for PAM in β-cell function, and establish molecular mechanisms for T2D risk alleles at this locus. 30054598 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 GeneticVariation disease GWASCAT Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. 29632382 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 GeneticVariation disease GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 Biomarker disease CTD_human Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells. 30054598 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 Biomarker disease CTD_human In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)). 24464100 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.420 GeneticVariation disease BEFREE In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)). 24464100 2014
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		0.310 GeneticVariation disease BEFREE We assessed person-reported outcome measures (PROMs) at baseline (hospital admission), discharge, and day 100: usefulness of BMT Roadmap (Perceived Usefulness); activation (Patient Activation Measure-Caregiver version [PAM-C]); mental health ([POMS-2®]: depression, distress, vigor, and fatigue); anxiety (State-Trait Anxiety Inventory); and quality of life (Caregiver Quality of Life Index-Cancer [CQOLC]). 30232587 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype BEFREE Current antidotes for organophosphate (OP) intoxication include atropine, 2-PAM and diazepam (a benzodiazepine for treating seizures and SE). 29802961 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype CTD_human Using mice heterozygous for peptidylglycine alpha-amidating monooxygenase (PAM), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and seizure sensitivity. 19815072 2010
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		0.310 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.300 Biomarker group CTD_human Using mice heterozygous for peptidylglycine alpha-amidating monooxygenase (PAM), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and seizure sensitivity. 19815072 2010
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker phenotype CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic 		0.300 Biomarker disease CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		0.300 Biomarker phenotype CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		0.300 Biomarker phenotype CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure 		0.300 Biomarker phenotype CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		0.300 Biomarker phenotype CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		0.300 Biomarker phenotype CTD_human Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction. 19815072 2010