|
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 |
|
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 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|
20881960 |
2010 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Defining the role of common variation in the genomic and biological architecture of adult human height.
|
25282103 |
2014 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
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 |
|
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 |
|
Delirium
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients were screened for delirium using CAM-ICU method.
|
31695347 |
2019 |
|
Delirium
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients were assessed for delirium within 1 hour of EEG with the 3-Minute Diagnostic Interview for Confusion Assessment Method (3D-CAM) and 3D-CAM severity score.
|
31467255 |
2019 |
|
Delirium
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We prospectively measured cerebral oxygenation with bilateral oximetry monitors in 310 cardiac surgery patients, quantified intraoperative hyperoxic cerebral reperfusion by measuring the magnitude of cerebral oxygenation above baseline after any ischemic event, and assessed patients for delirium twice daily in the ICU following surgery using the confusion assessment method for ICU (CAM-ICU).
|
28039082 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Fourteen (93%) of 15 tumors with perineural involvement were reactive with N-CAM.
|
9374166 |
1997 |
|
Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
|
20881960 |
2010 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Cytokine Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
|
22610502 |
2012 |
|
Cardiac Arrhythmia
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
The clinical and genetic features of 2 congenital arrhythmia cases associated with 2 novel CaM gene mutations were ascertained.
|
27374306 |
2016 |
|
Cardiac Arrhythmia
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
The life-threatening group of irregular cardiac rhythmic disorders also known as Cardiac Arrhythmias (CA) are caused by mutations in highly conserved Calmodulin (CALM/CaM) genes.
|
29932249 |
2018 |
|
X-linked hydrocephalus syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The suggestion that the three X linked syndromes X linked spastic paraplegia (MIM 312900), MASA syndrome (MIM 303350), and X linked hydrocephalus owing to stenosis of the aqueduct of Sylvius (MIM 307000) are variable clinical manifestations of mutations at the same locus at Xq28 was confirmed by the finding of mutations in the L1-CAM gene in the three syndromes.
|
7562969 |
1995 |
|
X-linked hydrocephalus syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
|
9195224 |
1997 |
|
Atypical hypotonia cystinuria syndrome
|
0.020 |
GeneticVariation
|
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 |
|
Mental Depression
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The present findings of specific alterations in depression and antidepressant treatment particularly in CAM-L1 suggest that this gene may play an important role in the pathophysiology and treatment of depression.
|
15820228 |
2005 |
|
Depressive disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The present findings of specific alterations in depression and antidepressant treatment particularly in CAM-L1 suggest that this gene may play an important role in the pathophysiology and treatment of depression.
|
15820228 |
2005 |
|
Malignant neoplasm of stomach
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
All 135 isolates from Japanese patients with gastric cancer (GC, n = 55) or non-GC (n = 80) were used and subjected to the drug susceptibility examinations (amoxicillin, AMPC; metronidazole, MNZ; and clarithromycin, CAM) by E-test.
|
24796534 |
2015 |
|
Multiple Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Filtering by a percentage of CAM genes up to 50% and rejecting enriched signals mainly driven by transcription factors, we highlighted five networks associated with MS susceptibility.
|
24430173 |
2014 |
|
Spastic Paraplegia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
|
7562969 |
1995 |