Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 Biomarker disease MGD Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 GeneticVariation disease BEFREE In atypical HCS an additional gene (C2orf34) is deleted, and finally, in the 2p21 deletion syndrome the open reading frame of PPM1B is also disrupted. 18781961 2008
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 Biomarker disease BEFREE Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. 28726805 2018
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0949496
Disease: Luft Disease
Luft Disease 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. 11524703 2001
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		0.300 ChromosomalRearrangement disease ORPHANET Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. 23794250 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.110 GeneticVariation disease GWASDB Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. 21738484 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.110 AlteredExpression disease BEFREE These N-CAM isoforms provide potential mechanisms for expression of multiple neurobiological alterations between controls and individuals with schizophrenia or bipolar illness. 11033343 2000
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.100 Biomarker disease HPO
CUI: C0011206
Disease: Delirium
Delirium 		0.100 Biomarker disease BEFREE In addition, delirium will be assessed preoperatively and postoperatively in the hospital using the Confusion Assessment Method (3D-CAM). 30804030 2019
CUI: C0011206
Disease: Delirium
Delirium 		0.100 GeneticVariation disease BEFREE On the first day of hospitalization, all enrolled patients were examined for cognitive impairment (assessed by MMSE) and delirium (assessed by CAM). 27251666 2017
CUI: C0011206
Disease: Delirium
Delirium 		0.100 Biomarker disease BEFREE Participants were assessed up to a maximum of four times during two weeks, using DSM-5 and DSM-IV criteria, DRS-R98 and CAM scales as proxies for DSM III-R and DSM III.Of the 200 assessed patients (mean age 81.1, SD = 6.5; and 50% female) during hospitalization, delirium was identified in 41 (20.5%) using DSM-5, 45 (22.5%) according to DSM-IV, 46 (23%) with CAM positive, and 37 (18.5%) with DRS-R98 severity score >15. 28903799 2018
CUI: C0011206
Disease: Delirium
Delirium 		0.100 Biomarker disease BEFREE These data suggest that the Chinese version of CAM-S has good reliability and validity in evaluating postoperative delirium in geriatric Chinese patients and may be a useful tool to assess the severity of delirium. 31127777 2019
CUI: C0011206
Disease: Delirium
Delirium 		0.100 GeneticVariation disease BEFREE Continued education about the CAM-ICU tool is still needed; additionally addressing barriers within the structure of the unit to provide nurses more resources to properly assess and prevent delirium. 30899957 2019
CUI: C0011206
Disease: Delirium
Delirium 		0.100 Biomarker disease BEFREE The Confusion Assessment Method ICU (CAM-ICU) was used to diagnose delirium. 28947274 2017
CUI: C0011206
Disease: Delirium
Delirium 		0.100 Biomarker disease BEFREE The principal exposures were FSD and SSD compared to no delirium (as measured by the CAM), along with individual delirium symptoms on the CAM. 29370764 2018
CUI: C0011206
Disease: Delirium
Delirium 		0.100 Biomarker disease BEFREE Thus, the non-prediction by the CAM-ICU or ICDSC did not refute the presence of delirium. 28173895 2017