|
Precursor cell lymphoblastic lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens.
|
31739126 |
2020 |
|
Adult Lymphoblastic Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens.
|
31739126 |
2020 |
|
Childhood Lymphoblastic Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens.
|
31739126 |
2020 |
|
Memory impairment
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
This study identified that PICALM may modulates memory deficits, reduced CMRgl and decreased metabolic connectivity in the vDMN in APOE-ε4 carriers.
|
29883038 |
2019 |
|
Essential Tremor
|
0.010 |
Biomarker
|
disease |
BEFREE |
Design of T-CALM may guide future clinical studies of ET pharmacotherapies.
|
31244760 |
2019 |
|
Paroxysmal familial ventricular fibrillation
|
0.010 |
Biomarker
|
disease |
BEFREE |
Other CALM-related phenotypes are idiopathic ventricular fibrillation (IVF, n = 7), sudden unexplained death (SUD, n = 4), overlapping features of CPVT/LQTS (n = 3), and predominant neurological phenotype (n = 1).
|
31170290 |
2019 |
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%).
|
31170290 |
2019 |
|
Alcohol Use Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
The presence of an alcohol use disorder was associated with greater improvement in alcohol use in UC + CALM ARC compared to UC.
|
29800622 |
2018 |
|
Withdrawal Symptoms
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Higher opiate-related withdrawal symptoms and the presence of more SUDs were associated with greater improvement in drug use outcomes in UC + CALM ARC compared to UC.
|
29800622 |
2018 |
|
Alcohol or Other Drugs use
|
0.010 |
Biomarker
|
disease |
BEFREE |
CALM ARC + UC outperformed UC on measures of anxiety and substance use at posttreatment and at a 6-month follow-up.
|
29300100 |
2018 |
|
Drug usage
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Higher opiate-related withdrawal symptoms and the presence of more SUDs were associated with greater improvement in drug use outcomes in UC + CALM ARC compared to UC.
|
29800622 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to examine whether the variants of some candidate genes involved in the development of AD, namely BIN1 (rs744373), CLU (rs11136000), CR1 (rs3818361), and PICALM (rs3851179), are related to several disorders of glucose metabolism-gestational diabetes (GDM), T2DM and impaired glucose tolerance (IGT).
|
28316001 |
2017 |
|
Neurofibromatosis 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability.
|
28150585 |
2017 |
|
Gestational Diabetes
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
This study demonstrates an association between PICALM rs3851179 and GDM as well as IGT.
|
28316001 |
2017 |
|
Impaired glucose tolerance
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
This study demonstrates an association between PICALM rs3851179 and GDM as well as IGT.
|
28316001 |
2017 |
|
Learning Disabilities
|
0.010 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability.
|
28150585 |
2017 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
|
0.010 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability.
|
28150585 |
2017 |
|
Cerebrovascular Disorders
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
|
Progressive supranuclear palsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
|
Frontotemporal dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
|
Obesity
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
(2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI = 4.03 × 10(-05), pBMI corr = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI = 0.002, rs2075650 at TOMM40/APOE, pBMI = 0.024, rs3865444 at CD33, pBMI = 0.024).
|
24788522 |
2014 |
|
Cerebral atrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The data suggest a neural mechanism for APOE-PICALM interactions in patients with manifest AD and indicate that the PICALM genotype modulates both brain atrophy and cognitive performance in APOE ε4 carriers.
|
24613704 |
2014 |
|
Familial lichen amyloidosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
63) associated nominally significantly with posterior AD, and rs3851179 at the PICALM locus had significant association with PCA (p = 0.0003, OR = 2.84).
|
24670887 |
2014 |
|
Brain atrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The data suggest a neural mechanism for APOE-PICALM interactions in patients with manifest AD and indicate that the PICALM genotype modulates both brain atrophy and cognitive performance in APOE ε4 carriers.
|
24613704 |
2014 |
|
Adult T Acute Lymphoblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
CALM-AF10 therefore identifies a poor prognostic group within sCD3/T-cell receptor negative adult T-cell acute lymphoblastic leukemias and is over-represented within early T-cell precursor acute lymphoblastic leukemias, in which it identifies patients in whom treatment is likely to fail.
|
23831922 |
2013 |